HNRNPU (Q00839) variants and mutations
HNRNPU (also known as Q00839) is a human protein-coding gene encoding a heterogeneous nuclear ribonucleoprotein U protein. A DNA- and RNA-binding protein that contributes to chromatin organization, transcription, and RNA processing. Variants can cause a neurodevelopmental disorder that often includes epilepsy. This analysis covers 984 HNRNPU variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes developmental and epileptic encephalopathy, 54, Epileptic encephalopathy, and hereditary disease. Example HNRNPU variants include M1L, S2N, and S2R.
Variant analysis overview
- Gene: HNRNPU
- Protein: Q00839
- UniProt accession: Q00839
- Organism: Homo sapiens
- Variants analyzed: 984
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 768 unspecified-consequence records; 4 stop lost; 87 synonymous variants; 102 missense variants; 4 stop-gained variants; 8 frameshift variants; 1 stop retained variant; 7 in-frame deletions; 4 splice-region variants; 3 in-frame insertions; 2 substitution
- Prediction scores: 959 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: developmental and epileptic encephalopathy, 54, Epileptic encephalopathy, hereditary disease, neurodegenerative disease, Seizure, Intellectual disability, complex neurodevelopmental disorder, dengue disease, Neurodevelopmental delay, neurodevelopmental disorder, Cachexia, neoplasm.
Protein structure and variant hotspots
- Protein features: 2 domains; 1 binding sites; 35 post-translational modification sites.
- Structural context: 184 variants have structural context.
- PTM context: 45 variants overlap post-translational modification sites.
- Experimental data: 41 protein positions have experimental scores. Source: HNRNPU SAP domain domainome 1.0.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to HNRNPU
Notable HNRNPU variants
Examples include M1L, S2N, S2R, S2T, S3C, S3T, S4L, S4W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs546427799, ClinGen CA1486880, ClinVar RCV003592637, ESM-1b 1.00, AlphaMissense 0.14, Pathogenic, Developmental and epileptic encephalopathy, 54
- S2N (p.Ser2Asn), Ensembl rs1014509764, ESM-1b 1.00, AlphaMissense 0.22
- S2R (p.Ser2Arg), 1000Genomes rs1680942375, TOPMed rs1680942375, REVEL 0.20, ESM-1b 1.00
- S2T (p.Ser2Thr), Ensembl rs1014509764, REVEL 0.14, ESM-1b 0.35
- S3C (p.Ser3Cys), rs771628842, ClinGen CA1486879, ClinVar RCV003592508, ExAC rs771628842, REVEL 0.09, ESM-1b 0.72, Uncertain significance, Developmental and epileptic encephalopathy, 54
- S3T (p.Ser3Thr), rs1680942323, ClinGen CA345498545, ClinVar RCV002777295, Ensembl rs1680942323, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- S4L (p.Ser4Leu), NCI-TCGA Cosmic COSV5169, cosmic curated COSV51694, gnomAD rs1322316080, REVEL 0.07, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- S4W (p.Ser4Trp), gnomAD rs1322316080, REVEL 0.15, ESM-1b 1.00
- P5L (p.Pro5Leu), TOPMed rs1680942008, REVEL 0.09, ESM-1b 0.00
- P5S (p.Pro5Ser), rs1680942062, ClinGen CA345498532, ClinVar RCV003757718, TOPMed rs1680942062, REVEL 0.08, ESM-1b 0.00, Likely benign, Developmental and epileptic encephalopathy, 54
- V6I (p.Val6Ile), ExAC rs770805349, gnomAD rs770805349, REVEL 0.02, ESM-1b 0.00
- L11V (p.Leu11Val), cosmic curated COSV10439, Ensembl rs1573338581, ESM-1b 1.00, AlphaMissense 0.99
- K12R (p.Lys12Arg), TOPMed rs1373869869, gnomAD rs1373869869, REVEL 0.44, ESM-1b 0.42
- K17T (p.Lys17Thr), Ensembl rs558342880, ESM-1b 1.00, AlphaMissense 1.00
- E19Q (p.Glu19Gln), rs1232667140, ClinGen CA345498430, ClinVar RCV003011978, TOPMed rs1232667140, ESM-1b 0.78, AlphaMissense 0.98, Uncertain significance, Developmental and epileptic encephalopathy, 54
- K21* (p.Lys21Ter), ExAC rs777663267, gnomAD rs777663267, CADD 36.00, Likely pathogenic
- K21E (p.Lys21Glu), rs777663267, ClinGen CA345498394, ClinVar RCV002466336, ESM-1b 1.00, AlphaMissense 0.98, Likely pathogenic, Developmental and epileptic encephalopathy, 54
- K21R (p.Lys21Arg), rs755839601, ClinGen CA1486873, ClinVar RCV002544809, ExAC rs755839601, REVEL 0.09, ESM-1b 0.00, Benign, Developmental and epileptic encephalopathy, 54
- R23* (p.Arg23Ter), rs869312701, ClinGen CA354931, ClinVar RCV000209838, Ensembl rs869312701, Pathogenic
- R24S (p.Arg24Ser), rs2102991038, ClinGen CA345498353, ClinVar RCV002554287, Ensembl rs2102991038, ESM-1b 0.00, AlphaMissense 0.77, Uncertain significance, Developmental and epileptic encephalopathy, 54
- D27E (p.Asp27Glu), rs1259160579, ClinGen CA345498299, ClinVar RCV002843938, ESM-1b 0.00, AlphaMissense 0.88, Likely benign, Developmental and epileptic encephalopathy, 54
- K28R (p.Lys28Arg), rs200952460, ClinGen CA1486870, cosmic curated COSV99310, ClinVar RCV002438240, REVEL 0.08, ESM-1b 0.00, Likely benign, Developmental and epileptic encephalopathy, 54; Inborn genetic diseases; not pro
- M35L (p.Met35Leu), rs1260819558, ClinGen CA345498166, ClinVar RCV003592551, TOPMed rs1260819558, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- E36Q (p.Glu36Gln), TOPMed rs1680939261, ESM-1b 0.00, AlphaMissense 0.67
- R37G (p.Arg37Gly), ExAC rs765869965, gnomAD rs765869965, ESM-1b 1.00, AlphaMissense 1.00, Likely benign
- L38I (p.Leu38Ile), rs2102991012, ClinGen CA345498113, ClinVar RCV002250051, Ensembl rs2102991012, ESM-1b 1.00, AlphaMissense 0.98, Pathogenic, Developmental and epileptic encephalopathy, 54
- L42M (p.Leu42Met), rs1364614921, ClinGen CA345498052, ClinVar RCV002642033, TOPMed rs1364614921, REVEL 0.26, ESM-1b 0.31, Uncertain significance, Developmental and epileptic encephalopathy, 54
- L42P (p.Leu42Pro), rs1553284037, ClinGen CA345498046, ClinVar RCV000658556, Ensembl rs1553284037, ESM-1b 1.00, AlphaMissense 1.00, Uncertain significance, not provided
- D43G (p.Asp43Gly), gnomAD rs1680938606, REVEL 0.24, ESM-1b 1.00
- D43V (p.Asp43Val), gnomAD rs1680938606, REVEL 0.27, ESM-1b 1.00
- D44N (p.Asp44Asn), Ensembl rs1680938510, REVEL 0.04, ESM-1b 0.00
- D44Y (p.Asp44Tyr), Ensembl rs1680938510, REVEL 0.10, ESM-1b 0.00
- E45Q (p.Glu45Gln), rs1680938345, ClinGen CA345498007, ClinVar RCV001169993, Ensembl rs1680938345, ESM-1b 0.46, AlphaMissense 0.56, Uncertain significance, Developmental and epileptic encephalopathy, 54
- E46A (p.Glu46Ala), rs2102990989, ClinGen CA345497989, ClinVar RCV001961698, ClinVar RCV003330104, REVEL 0.09, ESM-1b 0.00, Conflicting interpretations, Developmental and epileptic encephalopathy, 54; heterogeneous nuclear ribonucleo
- E46D (p.Glu46Asp), cosmic curated COSV51689, Ensembl rs1358372912, REVEL 0.06, ESM-1b 0.00, Benign, Developmental and epileptic encephalopathy, 54
- A47S (p.Ala47Ser), ExAC rs763955551, TOPMed rs763955551, gnomAD rs763955551, REVEL 0.14, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; Developmental and epileptic encephalopathy, 54
- A47V (p.Ala47Val), gnomAD rs1339167570, REVEL 0.08, ESM-1b 0.34
- G48R (p.Gly48Arg), Ensembl rs1680937998, ESM-1b 0.00, AlphaMissense 0.31
- G49D (p.Gly49Asp), ExAC rs199973300, TOPMed rs199973300, gnomAD rs199973300, REVEL 0.09, ESM-1b 0.00, Likely benign, not specified; Developmental and epileptic encephalopathy, 54
- G49R (p.Gly49Arg), ExAC rs775281977, gnomAD rs775281977, REVEL 0.06, ESM-1b 0.00
- R50C (p.Arg50Cys), ExAC rs773808446, TOPMed rs773808446, gnomAD rs773808446, REVEL 0.07, ESM-1b 0.00
- R50L (p.Arg50Leu), rs1573338421, ClinGen CA345497931, ClinVar RCV006464311, Ensembl rs1573338421, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance, Developmental and epileptic encephalopathy, 54
- R50S (p.Arg50Ser), ExAC rs773808446, TOPMed rs773808446, gnomAD rs773808446, ESM-1b 0.00, AlphaMissense 0.15
- P51S (p.Pro51Ser), gnomAD rs943157985, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, HNRNPU-related disorder
- M53I (p.Met53Ile), rs976496273, ClinGen CA40505299, ClinVar RCV002551031, TOPMed rs976496273, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- M53T (p.Met53Thr), rs2527896077, ClinGen CA345497890, ClinVar RCV003129323, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, not provided
- M53V (p.Met53Val), rs770396451, ClinGen CA1486858, ClinVar RCV002391288, ClinVar RCV003061717, REVEL 0.03, ESM-1b 0.00, Benign/Likely benign, Inborn genetic diseases; Developmental and epileptic encephalopathy, 54
- E54D (p.Glu54Asp), TOPMed rs1483367975, gnomAD rs1483367975, ESM-1b 0.00, AlphaMissense 0.08
- P55S (p.Pro55Ser), rs1680936789, ClinGen CA345497856, ClinVar RCV003821113, TOPMed rs1680936789, ESM-1b 0.00, AlphaMissense 0.12, Uncertain significance, Developmental and epileptic encephalopathy, 54
- G56R (p.Gly56Arg), gnomAD rs1201749229, REVEL 0.08, ESM-1b 0.00
- G58R (p.Gly58Arg), rs943805343, ClinGen CA40505294, ClinVar RCV003757321, TOPMed rs943805343, REVEL 0.10, ESM-1b 0.01, Likely benign, Developmental and epileptic encephalopathy, 54
- G58S (p.Gly58Ser), rs943805343, ClinGen CA345497810, ClinVar RCV002537457, TOPMed rs943805343, REVEL 0.15, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- S59N (p.Ser59Asn), rs2527896002, ClinGen CA345497786, ClinVar RCV002796408, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, Developmental and epileptic encephalopathy, 54
- L60R (p.Leu60Arg), ExAC rs780434344, REVEL 0.13, ESM-1b 0.00
- D61G (p.Asp61Gly), rs1317607352, ClinGen CA345497751, ClinVar RCV002564037, gnomAD rs1317607352, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- D61N (p.Asp61Asn), ExAC rs758647161, TOPMed rs758647161, gnomAD rs758647161, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- L62P (p.Leu62Pro), ExAC rs750566995, gnomAD rs750566995, REVEL 0.08, ESM-1b 0.00
- L62V (p.Leu62Val), rs2527895970, ClinGen CA345497739, ClinVar RCV003972014, REVEL 0.06, ESM-1b 0.00, Uncertain significance, HNRNPU-related disorder
- G64R (p.Gly64Arg), rs757262771, ClinGen CA1486849, ClinVar RCV003757397, ExAC rs757262771, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- D65N (p.Asp65Asn), gnomAD rs1444413380, ESM-1b 0.00, AlphaMissense 0.13
- S66A (p.Ser66Ala), gnomAD rs1355156088, REVEL 0.05, ESM-1b 0.00
- S66F (p.Ser66Phe), rs1163062953, ClinGen CA345497673, ClinVar RCV002608629, gnomAD rs1163062953, REVEL 0.07, ESM-1b 0.35, Uncertain significance, Developmental and epileptic encephalopathy, 54
- A67V (p.Ala67Val), gnomAD rs1383375662, REVEL 0.08, ESM-1b 0.00
- R69P (p.Arg69Pro), rs754427497, ClinGen CA1486848, ClinVar RCV002416113, ClinVar RCV002537562, REVEL 0.11, ESM-1b 0.00, Benign/Likely benign, Developmental and epileptic encephalopathy, 54; Inborn genetic diseases
- R69S (p.Arg69Ser), TOPMed rs1680935140, REVEL 0.05, ESM-1b 0.00
- G71R (p.Gly71Arg), rs1680934795, ClinGen CA345497632, ClinVar RCV002538477, Ensembl rs1680934795, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- G71V (p.Gly71Val), Ensembl rs2102990909, REVEL 0.05, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- G73V (p.Gly73Val), ExAC rs753009600, gnomAD rs753009600, REVEL 0.11, ESM-1b 0.00
- L74V (p.Leu74Val), rs1680934637, ClinGen CA345497615, ClinVar RCV002910674, Ensembl rs1680934637, REVEL 0.03, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- E75* (p.Glu75Ter), rs773969888, ClinGen CA345497610, ClinVar RCV002250050, ExAC rs773969888, CADD 37.00, Pathogenic
- E75K (p.Glu75Lys), rs773969888, ExAC rs773969888, TOPMed rs773969888, gnomAD rs773969888, REVEL 0.06, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- E75Q (p.Glu75Gln), rs773969888, ClinGen CA1486843, ClinVar RCV002561746, ExAC rs773969888, REVEL 0.10, ESM-1b 0.00, Likely benign, Developmental and epileptic encephalopathy, 54; not provided
- Q76* (p.Gln76Ter), rs1221183673, ClinGen CA345497602, ClinVar RCV002825119, AlphaMissense 0.06, MetaLR 0.06, Pathogenic
- Q76E (p.Gln76Glu), rs1221183673, ClinGen CA345497603, ClinVar RCV002291862, gnomAD rs1221183673, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, not provided
- Q76R (p.Gln76Arg), TOPMed rs1680934380, REVEL 0.06, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- E77Q (p.Glu77Gln), rs2102990891, ClinGen CA345497595, ClinVar RCV001809256, Ensembl rs2102990891, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, Developmental and epileptic encephalopathy, 54
- A78T (p.Ala78Thr), Ensembl rs1558190755, REVEL 0.06, ESM-1b 0.00
- A78V (p.Ala78Val), rs1489983826, ClinGen CA345497583, ClinVar RCV003840841, ClinVar RCV005353309, REVEL 0.07, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; Developmental and epileptic encephalopathy, 54
- A79T (p.Ala79Thr), rs1245925607, ClinGen CA345497582, ClinVar RCV002533495, TOPMed rs1245925607, REVEL 0.13, ESM-1b 0.13, Uncertain significance, Developmental and epileptic encephalopathy, 54
- A80D (p.Ala80Asp), rs1225658657, ClinGen CA345497574, ClinVar RCV003757756, gnomAD rs1225658657, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- A80T (p.Ala80Thr), ExAC rs762361480, gnomAD rs762361480, REVEL 0.02, ESM-1b 0.08
- A80V (p.Ala80Val), gnomAD rs1225658657, REVEL 0.07, ESM-1b 0.00, Likely benign, Inborn genetic diseases
- G81S (p.Gly81Ser), ExAC rs773204178, ESM-1b 0.00, AlphaMissense 0.09
- G82D (p.Gly82Asp), gnomAD rs1302622066, REVEL 0.03, ESM-1b 0.00
- D83E (p.Asp83Glu), rs1363572292, ClinGen CA345497554, cosmic curated COSV51689, ClinVar RCV003592057, REVEL 0.03, ESM-1b 0.00, Benign, Developmental and epileptic encephalopathy, 54
- D83N (p.Asp83Asn), gnomAD rs1403182602, REVEL 0.08, ESM-1b 0.00
- D83Y (p.Asp83Tyr), gnomAD rs1403182602, REVEL 0.08, ESM-1b 0.77
- E84K (p.Glu84Lys), ExAC rs769557448, gnomAD rs769557448, REVEL 0.08, ESM-1b 1.00, Uncertain significance, not provided
- E88* (p.Glu88Ter), gnomAD rs1362989304
- E90D (p.Glu90Asp), ExAC rs776529551, TOPMed rs776529551, gnomAD rs776529551, REVEL 0.03, ESM-1b 0.88, Likely benign
- E93K (p.Glu93Lys), cosmic curated COSV10500, TOPMed rs1680931978, gnomAD rs1680931978, REVEL 0.12, ESM-1b 1.00
- G95V (p.Gly95Val), rs2527895543, ClinGen CA345497460, ClinVar RCV003028215, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Developmental and epileptic encephalopathy, 54
- I96N (p.Ile96Asn), Ensembl rs1573338147, ESM-1b 0.00, AlphaMissense 0.10
- I96V (p.Ile96Val), ExAC rs768543741, gnomAD rs768543741, REVEL 0.01, ESM-1b 0.00
- S97A (p.Ser97Ala), Ensembl rs1166782086, ESM-1b 0.00, AlphaMissense 0.04
- S97C (p.Ser97Cys), gnomAD rs1479183749, REVEL 0.09, ESM-1b 0.00, Likely benign
- S97F (p.Ser97Phe), rs1479183749, ClinGen CA345497450, ClinVar RCV002553496, gnomAD rs1479183749, REVEL 0.11, ESM-1b 0.00, Likely benign, Developmental and epileptic encephalopathy, 54
- L99P (p.Leu99Pro), rs2527895512, ClinGen CA345497438, ClinVar RCV003757804, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Developmental and epileptic encephalopathy, 54
- D100A (p.Asp100Ala), TOPMed rs1273753748, ESM-1b 0.00, AlphaMissense 0.10
- D100E (p.Asp100Glu), TOPMed rs1308031438, gnomAD rs1308031438, REVEL 0.03, ESM-1b 0.00
- G101D (p.Gly101Asp), rs1680930913, ClinGen CA345497424, ClinVar RCV003103975, Ensembl rs1680930913, ESM-1b 0.00, AlphaMissense 0.20, Uncertain significance, Developmental and epileptic encephalopathy, 54
- G101R (p.Gly101Arg), rs1680930955, ClinGen CA345497427, ClinVar RCV002541914, Ensembl rs1680930955, ESM-1b 0.33, AlphaMissense 0.48, Likely benign, Developmental and epileptic encephalopathy, 54
- Q103* (p.Gln103Ter), rs1553283951, ClinGen CA16610079, ClinVar RCV002525546, Ensembl rs1553283951, Pathogenic
- Q103L (p.Gln103Leu), gnomAD rs1485854484, REVEL 0.03, ESM-1b 0.00
- M104I (p.Met104Ile), cosmic curated COSV51690, TOPMed rs1206468968, gnomAD rs1206468968, REVEL 0.05, ESM-1b 0.00
- M104K (p.Met104Lys), gnomAD rs1259318393, REVEL 0.09, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- E105D (p.Glu105Asp), rs749262345, 1000Genomes rs749262345, ExAC rs749262345, gnomAD rs749262345, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- E105Q (p.Glu105Gln), rs2527895441, ClinGen CA345497397, ClinVar RCV003415098, ESM-1b 0.00, AlphaMissense 0.27, Uncertain significance, not provided
- L106P (p.Leu106Pro), rs369111527, ClinGen CA1486822, ClinVar RCV002543161, ClinVar RCV004770026, REVEL 0.06, ESM-1b 0.00, Conflicting interpretations, not specified; Developmental and epileptic encephalopathy, 54
- L106V (p.Leu106Val), rs778359181, ClinGen CA345497390, ClinVar RCV003042996, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Developmental and epileptic encephalopathy, 54
- E108G (p.Glu108Gly), gnomAD rs1680930228, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- E109* (p.Glu109Ter), rs1680930166, ClinGen CA345497371, ClinVar RCV002557685, TOPMed rs1680930166, AlphaMissense 0.62, MetaLR 0.09, Pathogenic
- E109K (p.Glu109Lys), TOPMed rs1680930166, ESM-1b 0.72, AlphaMissense 0.32, Pathogenic
- E109Q (p.Glu109Gln), rs1680930166, ClinGen CA345497373, ClinVar RCV002471375, ESM-1b 0.00, AlphaMissense 0.62, Uncertain significance, Developmental and epileptic encephalopathy, 54
- G111A (p.Gly111Ala), rs2527895375, ClinGen CA345497353, ClinVar RCV003591393, ESM-1b 0.00, AlphaMissense 0.09, Likely benign, Developmental and epileptic encephalopathy, 54
- G111R (p.Gly111Arg), Ensembl rs1573338062, ESM-1b 0.34, AlphaMissense 0.31, Uncertain significance, Developmental and epileptic encephalopathy, 54
- A112D (p.Ala112Asp), Ensembl rs1680930008, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- A112T (p.Ala112Thr), rs1166595391, ClinGen CA345497351, ClinVar RCV003757336, gnomAD rs1166595391, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- A113S (p.Ala113Ser), TOPMed rs1347499063, gnomAD rs1347499063, REVEL 0.09, ESM-1b 0.00
- A113T (p.Ala113Thr), TOPMed rs1347499063, gnomAD rs1347499063, REVEL 0.11, ESM-1b 0.00
- A115V (p.Ala115Val), cosmic curated COSV99310, TOPMed rs1680929761, ESM-1b 0.00, AlphaMissense 0.08
- A116P (p.Ala116Pro), cosmic curated COSV51693, Ensembl rs2102990776, ESM-1b 0.00, AlphaMissense 0.08
- A116V (p.Ala116Val), rs1680929668, ClinGen CA345497324, ClinVar RCV002568557, Ensembl rs1680929668, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, Developmental and epileptic encephalopathy, 54
- D117A (p.Asp117Ala), ExAC rs755321884, gnomAD rs755321884, ESM-1b 0.00, AlphaMissense 0.07
- D117G (p.Asp117Gly), ExAC rs755321884, gnomAD rs755321884, REVEL 0.03, ESM-1b 0.00
- D117H (p.Asp117His), ExAC rs767918101, gnomAD rs767918101, REVEL 0.04, ESM-1b 0.00
- S118* (p.Ser118Ter), rs1057524584, ClinGen CA16603678, ClinVar RCV000424048, ClinVar RCV001824767, Pathogenic
- S118P (p.Ser118Pro), 1000Genomes rs554568535, ExAC rs554568535, gnomAD rs554568535, REVEL 0.07, ESM-1b 0.00
- G119S (p.Gly119Ser), rs2527895306, ClinGen CA345497311, ClinVar RCV002454928, ESM-1b 0.00, AlphaMissense 0.08, Likely benign, Inborn genetic diseases
- P120R (p.Pro120Arg), rs1455165658, ClinGen CA345497301, cosmic curated COSV51690, ClinVar RCV002544615, REVEL 0.06, ESM-1b 0.00, Benign, Developmental and epileptic encephalopathy, 54
- M121L (p.Met121Leu), gnomAD rs1388856266, REVEL 0.06, ESM-1b 0.00, Uncertain significance
- M121V (p.Met121Val), rs1388856266, ClinGen CA345497299, ClinVar RCV002563681, gnomAD rs1388856266, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- E122G (p.Glu122Gly), TOPMed rs1259140963, gnomAD rs1259140963, REVEL 0.09, ESM-1b 0.00
- E122Q (p.Glu122Gln), Ensembl rs1680929065, ESM-1b 0.00, AlphaMissense 0.12
- E123D (p.Glu123Asp), ExAC rs762536063, gnomAD rs762536063, REVEL 0.03, ESM-1b 0.00
- E123G (p.Glu123Gly), Ensembl rs2102990751, ESM-1b 0.00, AlphaMissense 0.08
- E124Q (p.Glu124Gln), rs1473996679, ClinGen CA345497274, ClinVar RCV002823696, TOPMed rs1473996679, REVEL 0.03, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- E125A (p.Glu125Ala), rs199765762, ClinGen CA1486814, ClinVar RCV000954016, ClinVar RCV002363473, REVEL 0.01, ESM-1b 0.00, Conflicting interpretations, Developmental and epileptic encephalopathy, 54; Inborn genetic diseases; not pro
- E125D (p.Glu125Asp), rs752671029, ClinGen CA1486813, ClinVar RCV001559672, ClinVar RCV002568393, REVEL 0.02, ESM-1b 0.00, Likely benign, Inborn genetic diseases; not provided
- A126P (p.Ala126Pro), rs2527895239, ClinGen CA345497260, ClinVar RCV003757852, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance, Developmental and epileptic encephalopathy, 54
- A126V (p.Ala126Val), gnomAD rs1354383547, REVEL 0.04, ESM-1b 0.00
- A127V (p.Ala127Val), rs776690627, ClinGen CA1486809, ClinVar RCV000515626, ExAC rs776690627, REVEL 0.03, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- S128F (p.Ser128Phe), rs758689637, gnomAD 1-244848855-G-A, ESM-1b 0.00, AlphaMissense 0.17
- E129G (p.Glu129Gly), rs1435707336, ClinGen CA345497240, ClinVar RCV002508372, ClinVar RCV006262489, REVEL 0.05, ESM-1b 0.00, Uncertain significance, not specified; not provided
- D130G (p.Asp130Gly), rs768631349, ClinGen CA1486808, ClinVar RCV003757105, ExAC rs768631349, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- D130N (p.Asp130Asn), gnomAD rs1428436177, REVEL 0.14, ESM-1b 0.00
- E131K (p.Glu131Lys), gnomAD rs1465646444, REVEL 0.13, ESM-1b 0.71
- E131Q (p.Glu131Gln), gnomAD rs1465646444, REVEL 0.13, ESM-1b 0.00
- N132D (p.Asn132Asp), rs1414347355, ClinGen CA345497220, ClinVar RCV002543184, TOPMed rs1414347355, REVEL 0.07, ESM-1b 0.00, Likely benign, Developmental and epileptic encephalopathy, 54
- N132K (p.Asn132Lys), Ensembl rs1680927779, REVEL 0.06, ESM-1b 0.00
- N132S (p.Asn132Ser), rs1489255367, NCI-TCGA Cosmic COSV9931, cosmic curated COSV99310, TOPMed rs1489255367, REVEL 0.11, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D134V (p.Asp134Val), TOPMed rs1680927724, gnomAD rs1680927724, REVEL 0.04, ESM-1b 0.00
- G137R (p.Gly137Arg), ExAC rs771002033, gnomAD rs771002033, REVEL 0.04, ESM-1b 0.14
- Q139* (p.Gln139Ter), rs1573337948, ClinGen CA345497170, ClinVar RCV000986583, NCI-TCGA TCGA novel, Likely pathogenic
- Q139L (p.Gln139Leu), ExAC rs749416136, gnomAD rs749416136, REVEL 0.09, ESM-1b 0.00
- E140D (p.Glu140Asp), rs1325726632, ClinGen CA345497157, ClinVar RCV002293490, ClinVar RCV002332723, REVEL 0.04, ESM-1b 0.00, Uncertain significance, not provided; Developmental and epileptic encephalopathy, 54; Inborn genetic dis
- E140K (p.Glu140Lys), rs1680927279, ClinGen CA345497163, ClinVar RCV001091232, Ensembl rs1680927279, REVEL 0.08, ESM-1b 1.00, Likely benign, not provided
- G141R (p.Gly141Arg), rs2527895152, ClinGen CA345497154, ClinVar RCV002472219, ESM-1b 0.33, AlphaMissense 0.81, Conflicting interpretations, Developmental and epileptic encephalopathy, 54
- E142* (p.Glu142Ter), Ensembl rs1680927097
- E142D (p.Glu142Asp), Ensembl rs1680927043, REVEL 0.04, ESM-1b 0.00
- L145F (p.Leu145Phe), ExAC rs748710323, gnomAD rs748710323, REVEL 0.10, ESM-1b 0.00
- L145L (p.Leu145Leu), gnomAD 1-244848836-C-A, CADD 21.80
- G146A (p.Gly146Ala), gnomAD rs1335894744, REVEL 0.01, ESM-1b 0.00, Uncertain significance
- G146E (p.Gly146Glu), rs1335894744, ClinGen CA345497111, ClinVar RCV003592552, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, Developmental and epileptic encephalopathy, 54
- G146R (p.Gly146Arg), rs980758296, ClinGen CA40505154, ClinVar RCV003887030, Ensembl rs980758296, ESM-1b 0.21, AlphaMissense 0.39, Uncertain significance, not provided
- G146* (p.Gly146Ter), gnomAD 1-244848832-C-A, CADD 20.20
- D147E (p.Asp147Glu), rs539279281, ClinGen CA1486799, cosmic curated COSV99310, ClinVar RCV002538001, REVEL 0.04, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- D147N (p.Asp147Asn), rs781659437, ClinGen CA1486800, ClinVar RCV002532340, ExAC rs781659437, REVEL 0.06, ESM-1b 0.00, Likely benign, Developmental and epileptic encephalopathy, 54
- D147Y (p.Asp147Tyr), rs781659437, ClinGen CA345497103, ClinVar RCV002318810, ExAC rs781659437, REVEL 0.07, ESM-1b 0.30, Uncertain significance, Inborn genetic diseases
- E148G (p.Glu148Gly), Ensembl rs1680926394, ESM-1b 0.00, AlphaMissense 0.10
- E149G (p.Glu149Gly), rs375569535, ClinGen CA40505134, ClinVar RCV002331511, ClinVar RCV002563453, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Developmental and epileptic encephalopathy, 54; Inborn genetic diseases
- E150D (p.Glu150Asp), rs1461052775, ClinGen CA345497050, ClinVar RCV003591268, ClinVar RCV004765897, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance, not provided; Developmental and epileptic encephalopathy, 54
- E150Q (p.Glu150Gln), Ensembl rs1025480447, ESM-1b 0.00, AlphaMissense 0.14
- G151C (p.Gly151Cys), rs570495195, ClinGen CA1486797, ClinVar RCV003022442, 1000Genomes rs570495195, REVEL 0.06, ESM-1b 1.00, Uncertain significance, Developmental and epileptic encephalopathy, 54
- G151S (p.Gly151Ser), rs570495195, ClinGen CA1486798, ClinVar RCV002706404, 1000Genomes rs570495195, REVEL 0.10, ESM-1b 0.00, Benign, Developmental and epileptic encephalopathy, 54
- G151R (p.Gly151Arg), rs753601131, gnomAD 1-244848820-C-T, ESM-1b 0.23, AlphaMissense 0.22
- A152V (p.Ala152Val), rs1680926034, ClinGen CA345497029, ClinVar RCV002562579, Ensembl rs1680926034, REVEL 0.07, ESM-1b 0.00, Likely benign, Developmental and epileptic encephalopathy, 54
- G153D (p.Gly153Asp), rs369208639, ClinGen CA1486794, ClinVar RCV002539092, ClinVar RCV003169170, REVEL 0.06, ESM-1b 0.00, Likely benign, Developmental and epileptic encephalopathy, 54; Inborn genetic diseases
- G153R (p.Gly153Arg), rs1680925916, ClinGen CA345497021, ClinVar RCV002547386, Ensembl rs1680925916, ESM-1b 0.50, AlphaMissense 0.35, Uncertain significance, Developmental and epileptic encephalopathy, 54
- E155D (p.Glu155Asp), rs776778115, ClinGen CA345496981, ClinVar RCV001199195, ExAC rs776778115, ESM-1b 0.00, AlphaMissense 0.09, Uncertain significance, Developmental and epileptic encephalopathy, 54
Public HNRNPU analysis runs
- HNRNPU analysis run — HNRNPU (984 variants) — completed 2026-10-09