SLC2A2 (P11168) variants and mutations
SLC2A2 (also known as P11168) is a human protein-coding gene encoding a solute carrier family 2, facilitated glucose transporter member 2 protein. It enables high-capacity bidirectional glucose transport in liver, intestine, kidney, and pancreatic cells, matching transport to changing glucose concentrations. Biallelic loss-of-function variants cause Fanconi-Bickel syndrome with hepatomegaly, abnormal glucose homeostasis, and renal tubular dysfunction. This analysis covers 836 SLC2A2 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes glycogen storage disease due to GLUT2 deficiency, type 2 diabetes mellitus, and diabetic ketoacidosis. Example SLC2A2 variants include M1R, T2P, and T2R.
Variant analysis overview
- Gene: SLC2A2
- Protein: P11168
- UniProt accession: P11168
- Organism: Homo sapiens
- Variants analyzed: 836
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 589 unspecified-consequence records; 1 stop retained variant; 1 stop lost; 102 missense variants; 27 frameshift variants; 102 synonymous variants; 2 in-frame deletions; 3 stop-gained variants; 6 splice-region variants; 1 in-frame insertions; 2 substitution
- Prediction scores: 637 variants have prediction scores (76% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: glycogen storage disease due to GLUT2 deficiency, type 2 diabetes mellitus, diabetic ketoacidosis, transient neonatal diabetes mellitus, neonatal diabetes mellitus, permanent neonatal diabetes mellitus, renal tubular transport disease, gout, diabetes mellitus, obesity disorder, enteritis, Romano-Ward syndrome.
Protein structure and variant hotspots
- Protein features: 12 transmembrane segments; 6 binding sites; 2 post-translational modification sites.
- Structural context: 404 variants have structural context.
- PTM context: 6 variants overlap post-translational modification sites.
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, MaveDB, LitVar.
Notable SLC2A2 variants
Examples include M1R, T2P, T2R, E3*, E3A, D4H, K5*, K5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1R (p.Met1Arg), rs1716716102, ClinGen CA355481286, ClinVar RCV001843322, MetaLR 0.54, MetaSVM 0.13, Pathogenic, Fanconi-Bickel syndrome
- T2P (p.Thr2Pro), ExAC rs773205789, REVEL 0.32, CADD 11.80
- T2R (p.Thr2Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E3* (p.Glu3Ter), rs2473935676, ClinGen CA355481275, ClinVar RCV003402268, CADD 35.00, Likely pathogenic
- E3A (p.Glu3Ala), gnomAD rs1716715700, REVEL 0.26, CADD 18.80
- D4H (p.Asp4His), rs200073044, ClinGen CA2702795, ClinVar RCV001174384, 1000Genomes rs200073044, REVEL 0.16, CADD 18.40, Uncertain significance, Monogenic diabetes
- K5* (p.Lys5Ter), gnomAD rs1372689853
- K5E (p.Lys5Glu), gnomAD rs1372689853, REVEL 0.11, CADD 18.50
- K5N (p.Lys5Asn), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- V6I (p.Val6Ile), ExAC rs767313610, TOPMed rs767313610, gnomAD rs767313610, REVEL 0.15, CADD 3.35
- T7N (p.Thr7Asn), rs369700669, ClinGen CA87701733, ClinVar RCV002967441, ClinVar RCV003170757, REVEL 0.57, CADD 23.20, Uncertain significance, Inborn genetic diseases; Fanconi-Bickel syndrome
- T9P (p.Thr9Pro), rs766082034, NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; high impact.
- V11F (p.Val11Phe), Ensembl rs1716267995
- F12L (p.Phe12Leu), gnomAD rs1481905618, REVEL 0.18, CADD 10.60
- T13A (p.Thr13Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T13N (p.Thr13Asn), gnomAD rs1247912820, Uncertain significance
- T13S (p.Thr13Ser), gnomAD rs1247912820, Uncertain significance, Type 2 diabetes mellitus; Fanconi-Bickel syndrome
- V14L (p.Val14Leu), ESP rs372441014, TOPMed rs372441014, gnomAD rs372441014, REVEL 0.37, CADD 21.10, Uncertain significance, Inborn genetic diseases
- I15T (p.Ile15Thr), rs766364438, ClinGen CA2702776, ClinVar RCV003386067, ExAC rs766364438, REVEL 0.24, CADD 17.00, Uncertain significance, Inborn genetic diseases
- A17D (p.Ala17Asp), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- A17T (p.Ala17Thr), Ensembl rs867315854
- A17V (p.Ala17Val), NCI-TCGA Cosmic COSV1000, REVEL 0.43, CADD 23.20, Variant assessed as somatic; moderate impact.
- G20C (p.Gly20Cys), rs2108262047, ClinGen CA355480664, ClinVar RCV001940222, Ensembl rs2108262047, REVEL 0.40, CADD 16.60, Uncertain significance, Fanconi-Bickel syndrome
- G20D (p.Gly20Asp), rs761992056, ClinGen CA2702775, ClinVar RCV003324353, ExAC rs761992056, REVEL 0.60, CADD 23.10, Likely pathogenic, Fanconi-Bickel syndrome
- S21Y (p.Ser21Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F22L (p.Phe22Leu), ESP rs369781481, TOPMed rs369781481, gnomAD rs369781481, REVEL 0.26, CADD 17.90
- F22Y (p.Phe22Tyr), NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; moderate impact.
- Q23* (p.Gln23Ter), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; high impact.
- F24Y (p.Phe24Tyr), gnomAD rs1409436045, REVEL 0.44, CADD 23.30
- G25R (p.Gly25Arg), rs2473923630, ClinGen CA355480630, ClinVar RCV002597687, REVEL 0.79, CADD 32.00, Uncertain significance, Fanconi-Bickel syndrome
- Y26H (p.Tyr26His), rs1716265568, ClinGen CA355480625, ClinVar RCV001329195, Ensembl rs1716265568, AlphaMissense 0.68, MetaLR 0.55, Uncertain significance, Type 2 diabetes mellitus
- D27V (p.Asp27Val), rs2108262016, ClinGen CA355480615, ClinVar RCV001984278, Ensembl rs2108262016, REVEL 0.54, CADD 24.10, Uncertain significance, Fanconi-Bickel syndrome
- I28T (p.Ile28Thr), TOPMed rs1049223265, gnomAD rs1049223265, REVEL 0.30, CADD 18.30
- G29R (p.Gly29Arg), TOPMed rs1437312005, gnomAD rs1437312005, REVEL 0.68, CADD 24.90
- G29S (p.Gly29Ser), TOPMed rs1437312005, gnomAD rs1437312005, REVEL 0.56, CADD 27.10
- N32S (p.Asn32Ser), ExAC rs775531825, TOPMed rs775531825, gnomAD rs775531825, REVEL 0.59, CADD 25.80
- A33T (p.Ala33Thr), rs143528640, ClinGen CA2702770, ClinVar RCV002993738, ESP rs143528640, REVEL 0.60, CADD 26.00, Uncertain significance, Fanconi-Bickel syndrome
- P34T (p.Pro34Thr), rs746158263, ClinGen CA2702769, ClinVar RCV002599335, ExAC rs746158263, REVEL 0.65, CADD 25.60, Uncertain significance, Fanconi-Bickel syndrome
- Q35* (p.Gln35Ter), ExAC rs774841662, gnomAD rs774841662, CADD 37.00
- Q36E (p.Gln36Glu), TOPMed rs1158195535, gnomAD rs1158195535, REVEL 0.18, CADD 15.90
- Q36K (p.Gln36Lys), TOPMed rs1158195535, gnomAD rs1158195535, REVEL 0.26, CADD 12.20
- V37I (p.Val37Ile), gnomAD rs1451394300
- I38K (p.Ile38Lys), gnomAD rs1360464436, REVEL 0.78, CADD 23.60
- I38L (p.Ile38Leu), gnomAD rs1477523180
- I38M (p.Ile38Met), rs2108257085, ClinGen CA355494019, ClinVar RCV001886937, Ensembl rs2108257085, AlphaMissense 0.21, MetaLR 0.44, Uncertain significance, Fanconi-Bickel syndrome
- I39T (p.Ile39Thr), TOPMed rs1176350402, gnomAD rs1176350402, REVEL 0.11, CADD 16.00
- H41Q (p.His41Gln), Ensembl rs1716057771
- Y42H (p.Tyr42His), rs2473916983, ClinGen CA355493967, ClinVar RCV003367473, REVEL 0.60, CADD 24.70, Uncertain significance, Inborn genetic diseases
- R43I (p.Arg43Ile), Ensembl rs758670698
- R43C (p.Arg43Cys), rs925986537, []
- H44R (p.His44Arg), TOPMed rs1716056716, REVEL 0.13, CADD 0.34
- H44Y (p.His44Tyr), rs760618624, ClinGen CA2702753, ClinVar RCV002663289, ClinVar RCV005281212, REVEL 0.15, CADD 2.23, Uncertain significance, Inborn genetic diseases; Fanconi-Bickel syndrome
- V45A (p.Val45Ala), ESP rs149108283, ExAC rs149108283, TOPMed rs149108283, gnomAD rs149108283, REVEL 0.19, CADD 14.40, Uncertain significance
- V45D (p.Val45Asp), rs149108283, ClinGen CA2702751, ClinVar RCV003002553, ClinVar RCV003002554, REVEL 0.56, CADD 22.70, Uncertain significance, Fanconi-Bickel syndrome; Inborn genetic diseases
- V45I (p.Val45Ile), ExAC rs775791143, TOPMed rs775791143, gnomAD rs775791143, REVEL 0.19, CADD 2.52
- G47S (p.Gly47Ser), Ensembl rs1159338702, REVEL 0.29, CADD 21.70
- V48I (p.Val48Ile), ExAC rs561765982, gnomAD rs561765982, REVEL 0.13, CADD 0.01
- P49S (p.Pro49Ser), TOPMed rs983907950, gnomAD rs983907950, REVEL 0.12, CADD 4.57
- L50P (p.Leu50Pro), TOPMed rs1211075508, gnomAD rs1211075508, REVEL 0.30, CADD 21.60
- D51G (p.Asp51Gly), NCI-TCGA Cosmic COSV5858, REVEL 0.17, CADD 22.10, Variant assessed as somatic; moderate impact.
- D51N (p.Asp51Asn), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- D51Y (p.Asp51Tyr), Ensembl rs1716054077
- D52N (p.Asp52Asn), TOPMed rs1311902495, gnomAD rs1311902495, REVEL 0.30, CADD 22.90
- D52Y (p.Asp52Tyr), TOPMed rs1311902495, gnomAD rs1311902495, REVEL 0.48, CADD 24.70
- R53* (p.Arg53Ter), rs771477447, ClinGen CA355493790, ClinVar RCV000017480, ClinVar RCV003974835, CADD 36.00, Pathogenic
- R53G (p.Arg53Gly), ExAC rs771477447, TOPMed rs771477447, gnomAD rs771477447, REVEL 0.28, CADD 22.70, Pathogenic
- R53Q (p.Arg53Gln), rs145210664, ClinGen CA2702747, ClinVar RCV000490046, ClinVar RCV000764477, REVEL 0.19, CADD 19.40, Conflicting interpretations, not provided; Fanconi-Bickel syndrome; Type 2 diabetes mellitus
- K54N (p.Lys54Asn), 1000Genomes rs546539032, ExAC rs546539032, TOPMed rs546539032, gnomAD rs546539032, REVEL 0.14, CADD 8.68, Likely benign
- N57K (p.Asn57Lys), Ensembl rs1716051069, REVEL 0.34, CADD 12.60, Uncertain significance, Inborn genetic diseases
- V60I (p.Val60Ile), ExAC rs747555903, TOPMed rs747555903, gnomAD rs747555903, REVEL 0.27, CADD 5.43
- I61M (p.Ile61Met), ExAC rs780903829, gnomAD rs780903829
- I61T (p.Ile61Thr), TOPMed rs977284195, gnomAD rs977284195, REVEL 0.28, CADD 0.44, Uncertain significance, Type 2 diabetes mellitus; Fanconi-Bickel syndrome
- N62I (p.Asn62Ile), Ensembl rs1716049452
- S63C (p.Ser63Cys), Ensembl rs1716049094
- S63G (p.Ser63Gly), Ensembl rs1716049094, REVEL 0.18, CADD 12.30
- S63T (p.Ser63Thr), rs1373290524, ClinGen CA355493562, ClinVar RCV001145064, ClinVar RCV005029721, REVEL 0.18, CADD 4.76, Uncertain significance, Type 2 diabetes mellitus; Fanconi-Bickel syndrome
- T64A (p.Thr64Ala), TOPMed rs1310901426, gnomAD rs1310901426, REVEL 0.37, CADD 21.30
- T64R (p.Thr64Arg), TOPMed rs1354126805, gnomAD rs1354126805, REVEL 0.56, CADD 21.50
- D65E (p.Asp65Glu), rs1217666649, ClinGen CA355493515, ClinVar RCV002976364, ClinVar RCV005028091, REVEL 0.21, CADD 0.00, Uncertain significance, Fanconi-Bickel syndrome; Type 2 diabetes mellitus
- D65N (p.Asp65Asn), ExAC rs754585542, gnomAD rs754585542, REVEL 0.23, CADD 4.17
- D65V (p.Asp65Val), Ensembl rs1716047501
- L67R (p.Leu67Arg), rs1560039886, ClinGen CA355493479, ClinVar RCV003355102, Ensembl rs1560039886, REVEL 0.52, CADD 13.30, Uncertain significance, Inborn genetic diseases
- L67V (p.Leu67Val), gnomAD rs1716046696, REVEL 0.15, CADD 0.18
- P68L (p.Pro68Leu), rs7637863, ClinGen CA2702741, ClinVar RCV000599891, ClinVar RCV000664087, REVEL 0.29, CADD 16.70, Benign/Likely benign, Monogenic diabetes; not provided; not specified
- P68T (p.Pro68Thr), gnomAD rs1391257598, REVEL 0.20, CADD 11.80
- T69A (p.Thr69Ala), Ensembl rs1716045355
- T69K (p.Thr69Lys), rs779977931, ClinGen CA2702740, ClinVar RCV000331437, ExAC rs779977931, REVEL 0.40, CADD 4.83, Uncertain significance, Fanconi-Bickel syndrome
- I70L (p.Ile70Leu), NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; moderate impact.
- I70V (p.Ile70Val), TOPMed rs1182852354, gnomAD rs1182852354, REVEL 0.31, CADD 0.00
- M74R (p.Met74Arg), Ensembl rs1716042516, REVEL 0.30, CADD 0.01
- M74V (p.Met74Val), rs750405382, ClinGen CA2702738, ClinVar RCV002592157, ExAC rs750405382, REVEL 0.12, CADD 0.00, Uncertain significance, Fanconi-Bickel syndrome
- N75D (p.Asn75Asp), gnomAD rs1207297111, REVEL 0.29, CADD 0.10
- N75K (p.Asn75Lys), NCI-TCGA Cosmic COSV5858, REVEL 0.32, CADD 0.77, Variant assessed as somatic; moderate impact.
- N75T (p.Asn75Thr), gnomAD rs1342979475, REVEL 0.26, CADD 0.00, Uncertain significance, Inborn genetic diseases
- P76A (p.Pro76Ala), rs1274084408, ClinGen CA355493282, ClinVar RCV002659345, gnomAD rs1274084408, REVEL 0.19, CADD 0.20, Uncertain significance, Fanconi-Bickel syndrome
- K77Q (p.Lys77Gln), NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; moderate impact.
- P78L (p.Pro78Leu), ExAC rs778655073
- P78T (p.Pro78Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- W81C (p.Trp81Cys), 1000Genomes rs531049536, ExAC rs531049536, gnomAD rs531049536, REVEL 0.25, CADD 10.40
- W81R (p.Trp81Arg), 1000Genomes rs549263048, ExAC rs549263048, gnomAD rs549263048, REVEL 0.30, CADD 0.04
- E83K (p.Glu83Lys), rs150851401, ClinGen CA2702732, ClinVar RCV000253307, ClinVar RCV000274009, REVEL 0.24, CADD 12.70, Conflicting interpretations, not specified; Fanconi-Bickel syndrome; Type 2 diabetes mellitus
- E84A (p.Glu84Ala), TOPMed rs1716040241
- E85D (p.Glu85Asp), NCI-TCGA Cosmic COSV1000, NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; moderate impact.
- T86I (p.Thr86Ile), ExAC rs766762468, TOPMed rs766762468, gnomAD rs766762468, REVEL 0.20, CADD 3.35
- T86S (p.Thr86Ser), ExAC rs766762468, TOPMed rs766762468, gnomAD rs766762468, REVEL 0.14, CADD 0.29, Uncertain significance, Inborn genetic diseases
- A88S (p.Ala88Ser), rs763255363, ExAC rs763255363, gnomAD rs763255363, REVEL 0.18, CADD 0.88, Variant assessed as somatic; moderate impact.
- A89D (p.Ala89Asp), Ensembl rs2108256517, REVEL 0.27, CADD 11.80
- Q91H (p.Gln91His), TOPMed rs1163149975
- L92P (p.Leu92Pro), gnomAD rs1716039240
- L92V (p.Leu92Val), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- I93V (p.Ile93Val), ESP rs144715667
- T94P (p.Thr94Pro), Ensembl rs1716038808
- M95I (p.Met95Ile), Ensembl rs1560039826, REVEL 0.25, CADD 15.70
- M95R (p.Met95Arg), TOPMed rs1415169647, gnomAD rs1415169647, REVEL 0.45, CADD 20.50
- M95V (p.Met95Val), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- L96F (p.Leu96Phe), NCI-TCGA Cosmic COSV1000, NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; moderate impact.
- W97C (p.Trp97Cys), rs1407375423, TOPMed rs1407375423, AlphaMissense 0.94, MetaLR 0.76, Variant assessed as somatic; moderate impact.
- S98F (p.Ser98Phe), NCI-TCGA TCGA novel, Ensembl rs1716037949, REVEL 0.90, CADD 28.30, Variant assessed as somatic; moderate impact.
- S98P (p.Ser98Pro), TOPMed rs1716038093, REVEL 0.92, CADD 27.60
- V101A (p.Val101Ala), ExAC rs770135219, gnomAD rs770135219, REVEL 0.79, CADD 27.30
- V101I (p.Val101Ile), rs1800572, ClinGen CA2702728, ClinVar RCV000245094, ClinVar RCV000960501, REVEL 0.46, CADD 25.20, Benign/Likely benign, Monogenic diabetes; not specified; not provided
- V101L (p.Val101Leu), 1000Genomes rs1800572, ESP rs1800572, ExAC rs1800572, TOPMed rs1800572, Benign
- S102C (p.Ser102Cys), TOPMed rs1716037183
- S102F (p.Ser102Phe), TOPMed rs1716037183
- F104L (p.Phe104Leu), Ensembl rs1716036743, REVEL 0.66, CADD 25.20
- A105V (p.Ala105Val), TOPMed rs1399091893, gnomAD rs1399091893, REVEL 0.42, CADD 27.20
- V106A (p.Val106Ala), Ensembl rs1716035986, REVEL 0.48, CADD 23.90
- V106I (p.Val106Ile), TOPMed rs1332764085, REVEL 0.11, CADD 5.23
- G108E (p.Gly108Glu), NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; moderate impact.
- G108R (p.Gly108Arg), TOPMed rs1716035822, REVEL 0.79, CADD 28.00
- M109I (p.Met109Ile), NCI-TCGA Cosmic COSV1000, REVEL 0.40, CADD 22.00, Variant assessed as somatic; moderate impact.
- T110I (p.Thr110Ile), rs5400, ClinGen CA020012, ClinVar RCV000118387, ClinVar RCV000370969, REVEL 0.17, CADD 18.00, Benign, not specified; not provided; Fanconi-Bickel syndrome
- A111P (p.Ala111Pro), ESP rs377238940
- A111V (p.Ala111Val), gnomAD rs1716034660, REVEL 0.49, CADD 26.30, Uncertain significance, Type 2 diabetes mellitus; Fanconi-Bickel syndrome; Inborn genetic diseases
- S112* (p.Ser112Ter), gnomAD rs1475086161
- F113L (p.Phe113Leu), NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; moderate impact.
- G115V (p.Gly115Val), TOPMed rs1716033808
- G116A (p.Gly116Ala), ExAC rs768407637, TOPMed rs768407637, gnomAD rs768407637
- G116V (p.Gly116Val), ExAC rs768407637, TOPMed rs768407637, gnomAD rs768407637, REVEL 0.92, CADD 25.60
- W117* (p.Trp117Ter), rs753980727, ClinGen CA355492561, ClinVar RCV002250958, Ensembl rs753980727, CADD 37.00, Pathogenic
- W117C (p.Trp117Cys), Ensembl rs753980727, Pathogenic
- W117L (p.Trp117Leu), Ensembl rs2108256352, REVEL 0.14, CADD 13.90
- G119A (p.Gly119Ala), ExAC rs746632604, TOPMed rs746632604, gnomAD rs746632604, REVEL 0.37, CADD 16.00
- G119R (p.Gly119Arg), rs2473915944, ClinGen CA355492542, ClinVar RCV003518745, REVEL 0.67, CADD 23.90, Uncertain significance, Fanconi-Bickel syndrome
- T121I (p.Thr121Ile), ExAC rs772002572, TOPMed rs772002572, gnomAD rs772002572, REVEL 0.26, CADD 5.28
- G123* (p.Gly123Ter), TOPMed rs1716032180
- I125N (p.Ile125Asn), gnomAD rs1476520648
- I125T (p.Ile125Thr), NCI-TCGA TCGA novel, REVEL 0.20, CADD 22.00, Variant assessed as somatic; moderate impact.
- A127D (p.Ala127Asp), ExAC rs760201098, gnomAD rs760201098, REVEL 0.75, CADD 24.90
- A127S (p.Ala127Ser), rs1576833940, ClinGen CA355491775, ClinVar RCV000810094, gnomAD rs1576833940, REVEL 0.19, CADD 16.50, Uncertain significance, Fanconi-Bickel syndrome
- M128I (p.Met128Ile), TOPMed rs1212980167, gnomAD rs1212980167, REVEL 0.25, CADD 22.30
- M128T (p.Met128Thr), gnomAD rs1267904495, REVEL 0.65, CADD 24.80
- L129I (p.Leu129Ile), TOPMed rs1715814283, Uncertain significance, Type 2 diabetes mellitus; Fanconi-Bickel syndrome
- V130A (p.Val130Ala), 1000Genomes rs367856967, ESP rs367856967, TOPMed rs367856967, gnomAD rs367856967, REVEL 0.05, CADD 11.40
- A131G (p.Ala131Gly), TOPMed rs970550665, gnomAD rs970550665, REVEL 0.36, CADD 22.50
- I133F (p.Ile133Phe), ExAC rs775283150, gnomAD rs775283150, REVEL 0.09, CADD 16.40
- L134M (p.Leu134Met), NCI-TCGA Cosmic COSV1000, NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; moderate impact.
- L134R (p.Leu134Arg), Ensembl rs913419413
- L134V (p.Leu134Val), NCI-TCGA Cosmic COSV1000, NCI-TCGA Cosmic COSV5858, REVEL 0.42, CADD 21.30, Variant assessed as somatic; moderate impact.
- S135P (p.Ser135Pro), ExAC rs771843187, gnomAD rs771843187, REVEL 0.55, CADD 24.20
- L136* (p.Leu136Ter), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; high impact.
- V137A (p.Val137Ala), TOPMed rs993833041, gnomAD rs993833041, REVEL 0.23, CADD 0.52
- V137F (p.Val137Phe), NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; moderate impact.
- V137I (p.Val137Ile), ESP rs144125084, ExAC rs144125084, TOPMed rs144125084, gnomAD rs144125084, Uncertain significance
- V137L (p.Val137Leu), rs144125084, ClinGen CA2702703, ClinVar RCV002903800, ESP rs144125084, REVEL 0.19, CADD 4.68, Uncertain significance, Fanconi-Bickel syndrome
- G138E (p.Gly138Glu), gnomAD rs1300072764, REVEL 0.84, CADD 25.20
- A139T (p.Ala139Thr), rs2473906662, ClinGen CA355491706, ClinVar RCV002581837, REVEL 0.51, CADD 23.40, Uncertain significance, Fanconi-Bickel syndrome
- L140F (p.Leu140Phe), ExAC rs778548964, TOPMed rs778548964, gnomAD rs778548964, REVEL 0.40, CADD 21.10
- L140P (p.Leu140Pro), Ensembl rs2108250641, REVEL 0.84, CADD 24.20
- L140V (p.Leu140Val), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- L141F (p.Leu141Phe), Ensembl rs1715811712, REVEL 0.51, CADD 23.10
- L141V (p.Leu141Val), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- M142I (p.Met142Ile), TOPMed rs1715811391
- M142K (p.Met142Lys), TOPMed rs1016384738, gnomAD rs1016384738, REVEL 0.97, CADD 27.20, Uncertain significance, Inborn genetic diseases
- G143R (p.Gly143Arg), ExAC rs770941010, gnomAD rs770941010, REVEL 0.88, CADD 25.40
- S145L (p.Ser145Leu), NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; moderate impact.
- S145P (p.Ser145Pro), Ensembl rs2108250603
- L147F (p.Leu147Phe), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- G148D (p.Gly148Asp), NCI-TCGA Cosmic COSV5858, Variant assessed as somatic; high impact.
- G148E (p.Gly148Glu), ExAC rs777718289, TOPMed rs777718289, gnomAD rs777718289, REVEL 0.68, CADD 25.50, Uncertain significance, Inborn genetic diseases
Public SLC2A2 analysis runs
- SLC2A2 analysis run — SLC2A2 (836 variants) — completed 2026-08-20