ERCC3 (P19447) variants and mutations
ERCC3 (also known as P19447) is a human protein-coding gene encoding a general transcription and DNA repair factor IIH helicase/translocase subunit XPB protein. The XPB helicase/translocase subunit of TFIIH, used in transcription initiation and nucleotide-excision repair. Variants can cause xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy. This analysis covers 1,391 ERCC3 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes xeroderma pigmentosum group B, trichothiodystrophy 2, photosensitive, and xeroderma pigmentosum-Cockayne syndrome complex. Example ERCC3 variants include G2C, G2D, and G2R.
Variant analysis overview
- Gene: ERCC3
- Protein: P19447
- UniProt accession: P19447
- Organism: Homo sapiens
- Variants analyzed: 1391
- Variant scope: all variants
- Completed: 2026-10-09
Variant and mutation evidence
- Variant composition: 1,142 unspecified-consequence records; 1 stop retained variant; 28 frameshift variants; 2 stop lost; 152 missense variants; 9 stop-gained variants; 101 synonymous variants; 4 in-frame deletions; 3 splice-region variants; 1 in-frame insertions; 2 substitution
- Prediction scores: 1,354 variants have prediction scores (97% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: xeroderma pigmentosum group B, trichothiodystrophy 2, photosensitive, xeroderma pigmentosum-Cockayne syndrome complex, trichothiodystrophy, xeroderma pigmentosum, HIV infectious disease, photosensitive trichothiodystrophy, trichothiodystrophy 1, photosensitive, hereditary disease, prostate carcinoma, ovarian endometrioid adenocarcinoma with squamous differentiation, cutaneous melanoma.
Protein structure and variant hotspots
- Protein features: 2 domains; 3 binding sites; 2 post-translational modification sites.
- Structural context: 533 variants have structural context.
- PTM context: 4 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to ERCC3
Notable ERCC3 variants
Examples include G2C, G2D, G2R, G2S, K3R, R4G, R4S, D5G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- G2C (p.Gly2Cys), TOPMed rs1685381866, gnomAD rs1685381866, ESM-1b 1.00, AlphaMissense 0.27
- G2D (p.Gly2Asp), rs866954274, ClinGen CA55344414, cosmic curated COSV10639, ClinVar RCV001971666, REVEL 0.17, ESM-1b 1.00, Uncertain significance, not provided
- G2R (p.Gly2Arg), TOPMed rs1685381866, gnomAD rs1685381866, ESM-1b 1.00, AlphaMissense 0.55
- G2S (p.Gly2Ser), cosmic curated COSV10639, TOPMed rs1685381866, gnomAD rs1685381866, REVEL 0.20, ESM-1b 0.12
- K3R (p.Lys3Arg), rs1028560626, ClinGen CA55344388, ClinVar RCV002649845, TOPMed rs1028560626, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided
- R4G (p.Arg4Gly), Ensembl rs2104784413, REVEL 0.04, ESM-1b 0.00
- R4S (p.Arg4Ser), TOPMed rs1394007429, gnomAD rs1394007429, REVEL 0.07, ESM-1b 0.00
- D5G (p.Asp5Gly), Ensembl rs2104784404, ESM-1b 0.00, AlphaMissense 0.16
- D5N (p.Asp5Asn), rs2468073640, ClinGen CA348392477, ClinVar RCV002801296, REVEL 0.13, ESM-1b 0.00, Uncertain significance, not provided
- R6* (p.Arg6Ter), 1000Genomes rs542029381, ExAC rs542029381, gnomAD rs542029381, CADD 37.00
- R6G (p.Arg6Gly), 1000Genomes rs542029381, ExAC rs542029381, gnomAD rs542029381, REVEL 0.17, ESM-1b 0.00
- R6L (p.Arg6Leu), TOPMed rs893323064, gnomAD rs893323064, REVEL 0.08, ESM-1b 0.80
- R6P (p.Arg6Pro), TOPMed rs893323064, gnomAD rs893323064, REVEL 0.11, ESM-1b 0.62
- R6Q (p.Arg6Gln), TOPMed rs893323064, gnomAD rs893323064, REVEL 0.05, ESM-1b 0.42
- A7V (p.Ala7Val), rs1461005787, ClinGen CA348392462, ClinVar RCV002588690, TOPMed rs1461005787, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided
- D8E (p.Asp8Glu), Ensembl rs2104784345, REVEL 0.10, ESM-1b 0.00
- D8N (p.Asp8Asn), cosmic curated COSV53426, ExAC rs756810937, gnomAD rs756810937, REVEL 0.06, ESM-1b 0.40
- R9G (p.Arg9Gly), TOPMed rs1319949323, gnomAD rs1319949323, REVEL 0.17, ESM-1b 0.00
- R9S (p.Arg9Ser), rs1319949323, TOPMed rs1319949323, gnomAD rs1319949323, REVEL 0.19, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D10N (p.Asp10Asn), gnomAD rs1438418977, REVEL 0.05, ESM-1b 0.00
- K11E (p.Lys11Glu), rs2104783457, ClinGen CA348392429, ClinVar RCV001767228, Ensembl rs2104783457, ESM-1b 0.00, AlphaMissense 0.22, Uncertain significance, not provided
- K11M (p.Lys11Met), rs199934696, ClinGen CA348392426, ClinVar RCV001051065, 1000Genomes rs199934696, ESM-1b 0.55, AlphaMissense 0.37, Uncertain significance, not provided
- K11N (p.Lys11Asn), ExAC rs746412466, TOPMed rs746412466, gnomAD rs746412466, REVEL 0.08, ESM-1b 0.00
- K11R (p.Lys11Arg), rs199934696, ClinGen CA1858638, cosmic curated COSV53430, ClinVar RCV001051064, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided; Xeroderma pigmentosum group B
- K12N (p.Lys12Asn), rs2468071881, ClinGen CA348392419, ClinVar RCV003154705, ESM-1b 0.00, AlphaMissense 0.52, Benign, Ovarian cancer
- K12R (p.Lys12Arg), Ensembl rs1032532070, REVEL 0.06, ESM-1b 0.00
- K13T (p.Lys13Thr), Ensembl rs2104783432, ESM-1b 0.00, AlphaMissense 0.23
- S14F (p.Ser14Phe), Ensembl rs2104783419, ESM-1b 0.00, AlphaMissense 0.11
- S14T (p.Ser14Thr), Ensembl rs2104783426, ESM-1b 0.00, AlphaMissense 0.08
- R15W (p.Arg15Trp), gnomAD rs1454594744, REVEL 0.12, ESM-1b 0.60
- R17G (p.Arg17Gly), ExAC rs779316093, TOPMed rs779316093, gnomAD rs779316093, ESM-1b 0.00, AlphaMissense 0.23, Likely benign
- R17L (p.Arg17Leu), ExAC rs771417265, gnomAD rs771417265, REVEL 0.17, ESM-1b 0.09
- R17W (p.Arg17Trp), ExAC rs779316093, TOPMed rs779316093, gnomAD rs779316093, REVEL 0.21, ESM-1b 0.64, Likely benign
- H18D (p.His18Asp), Ensembl rs2104783364, ESM-1b 0.00, AlphaMissense 0.13
- H18P (p.His18Pro), ExAC rs749337980, gnomAD rs749337980, ESM-1b 0.00, AlphaMissense 0.06
- H18Y (p.His18Tyr), Ensembl rs2104783364, REVEL 0.11, ESM-1b 0.00
- D21H (p.Asp21His), Ensembl rs2104783350, ESM-1b 1.00, AlphaMissense 0.22
- E22G (p.Glu22Gly), ExAC rs756471066, TOPMed rs756471066, gnomAD rs756471066, REVEL 0.15, ESM-1b 0.29
- E23D (p.Glu23Asp), TOPMed rs1685359982, ESM-1b 0.00, AlphaMissense 0.06
- D24E (p.Asp24Glu), rs531561069, ClinGen CA1858630, ClinVar RCV001973303, ClinVar RCV002569307, REVEL 0.07, ESM-1b 0.00, Conflicting interpretations, Inborn genetic diseases; not provided
- D24G (p.Asp24Gly), TOPMed rs1313189867, gnomAD rs1313189867, REVEL 0.07, ESM-1b 0.00
- D24N (p.Asp24Asn), ExAC rs752952963, TOPMed rs752952963, gnomAD rs752952963, REVEL 0.13, ESM-1b 0.48
- D24V (p.Asp24Val), TOPMed rs1313189867, gnomAD rs1313189867, REVEL 0.10, ESM-1b 0.41
- E26D (p.Glu26Asp), Ensembl rs2104783293, ESM-1b 0.00, AlphaMissense 0.06
- E26K (p.Glu26Lys), Ensembl rs1676311103, ESM-1b 1.00, AlphaMissense 0.13
- E27A (p.Glu27Ala), Ensembl rs2104783282, ESM-1b 0.00, AlphaMissense 0.10
- E27D (p.Glu27Asp), NCI-TCGA TCGA novel, Ensembl rs2104783275, ESM-1b 0.00, AlphaMissense 0.06, Variant assessed as somatic; moderate impact.
- E27K (p.Glu27Lys), ESP rs144596821, ExAC rs144596821, gnomAD rs144596821, REVEL 0.08, ESM-1b 0.99
- E27Q (p.Glu27Gln), ESP rs144596821, ExAC rs144596821, gnomAD rs144596821, REVEL 0.09, ESM-1b 0.22
- D28H (p.Asp28His), Ensembl rs2104783267, ESM-1b 0.06, AlphaMissense 0.19
- D28N (p.Asp28Asn), Ensembl rs2104783267, ESM-1b 0.00, AlphaMissense 0.09
- D28Y (p.Asp28Tyr), Ensembl rs2104783267, ESM-1b 0.00, AlphaMissense 0.12
- A29T (p.Ala29Thr), Ensembl rs2104783255, REVEL 0.06, ESM-1b 0.00
- A29V (p.Ala29Val), 1000Genomes rs562762727, REVEL 0.06, ESM-1b 0.00
- P30A (p.Pro30Ala), ExAC rs751320999, TOPMed rs751320999, gnomAD rs751320999, REVEL 0.08, ESM-1b 0.00, Uncertain significance
- P30L (p.Pro30Leu), rs1371919188, ClinGen CA348392293, cosmic curated COSV53431, ClinVar RCV002591410, REVEL 0.05, ESM-1b 0.00, Uncertain significance, not provided
- P30R (p.Pro30Arg), TOPMed rs1371919188, gnomAD rs1371919188, ESM-1b 0.00, AlphaMissense 0.10, Uncertain significance
- P30T (p.Pro30Thr), ExAC rs751320999, TOPMed rs751320999, gnomAD rs751320999, REVEL 0.06, ESM-1b 0.00, Uncertain significance
- G31A (p.Gly31Ala), TOPMed rs1685358254, ESM-1b 0.00, AlphaMissense 0.08
- D33E (p.Asp33Glu), TOPMed rs907355401, gnomAD rs907355401, REVEL 0.08, ESM-1b 0.00
- D33V (p.Asp33Val), Ensembl rs2104783210, ESM-1b 0.00, AlphaMissense 0.11
- D33Y (p.Asp33Tyr), Ensembl rs2104783214, REVEL 0.17, ESM-1b 0.00
- P34S (p.Pro34Ser), Ensembl rs1647471617, ESM-1b 0.00, AlphaMissense 0.06
- Q35* (p.Gln35Ter), TOPMed rs1250589018, gnomAD rs1250589018
- Q35H (p.Gln35His), TOPMed rs1373227745, gnomAD rs1373227745, REVEL 0.14, ESM-1b 0.00, Likely benign
- Q35K (p.Gln35Lys), TOPMed rs1250589018, gnomAD rs1250589018, REVEL 0.16, ESM-1b 0.00
- E36Q (p.Glu36Gln), Ensembl rs2104783182, ESM-1b 0.00, AlphaMissense 0.15
- A37T (p.Ala37Thr), rs773797861, ClinGen CA1858623, ClinVar RCV002049946, ExAC rs773797861, REVEL 0.18, ESM-1b 0.00, Uncertain significance, not provided
- A37V (p.Ala37Val), gnomAD rs1435070019, REVEL 0.28, ESM-1b 0.00
- V38D (p.Val38Asp), TOPMed rs1685356393, ESM-1b 0.00, AlphaMissense 0.85
- V38G (p.Val38Gly), TOPMed rs1685356393, ESM-1b 0.00, AlphaMissense 0.54
- V38I (p.Val38Ile), cosmic curated COSV11343, Ensembl rs2104783159, ESM-1b 0.00, AlphaMissense 0.07
- P39H (p.Pro39His), TOPMed rs897871697, ESM-1b 0.00, AlphaMissense 0.95
- P39L (p.Pro39Leu), cosmic curated COSV10513, TOPMed rs897871697, ESM-1b 0.00, AlphaMissense 0.87
- S40L (p.Ser40Leu), rs1251238422, ClinGen CA348392226, cosmic curated COSV10725, ClinVar RCV004380522, REVEL 0.14, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- S40W (p.Ser40Trp), TOPMed rs1251238422, gnomAD rs1251238422, ESM-1b 0.88, AlphaMissense 0.25, Uncertain significance
- A41G (p.Ala41Gly), TOPMed rs1239018301, gnomAD rs1239018301, ESM-1b 0.00, AlphaMissense 0.45, Uncertain significance
- A41V (p.Ala41Val), rs1239018301, ClinGen CA348392220, ClinVar RCV002257075, TOPMed rs1239018301, REVEL 0.24, ESM-1b 0.00, Uncertain significance, Xeroderma pigmentosum
- A42G (p.Ala42Gly), ExAC rs759837409, TOPMed rs759837409, gnomAD rs759837409, ESM-1b 0.00, AlphaMissense 0.62
- A42T (p.Ala42Thr), ExAC rs776237342, gnomAD rs776237342, ESM-1b 0.00, AlphaMissense 0.70
- A42V (p.Ala42Val), ExAC rs759837409, TOPMed rs759837409, gnomAD rs759837409, REVEL 0.23, ESM-1b 0.00
- G43E (p.Gly43Glu), Ensembl rs2104783091, ESM-1b 0.00, AlphaMissense 0.42
- G43R (p.Gly43Arg), Ensembl rs1685355046, REVEL 0.18, ESM-1b 0.00
- K44E (p.Lys44Glu), Ensembl rs2104783081, ESM-1b 0.00, AlphaMissense 0.25
- K44N (p.Lys44Asn), Ensembl rs2104783068, ESM-1b 0.00, AlphaMissense 0.55, Likely benign
- K44R (p.Lys44Arg), rs771345526, ClinGen CA1858615, ClinVar RCV001133123, ClinVar RCV002556852, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases; not provided; Xeroderma pigmentosum group B
- Q45* (p.Gln45Ter), rs1685354796, ClinGen CA348392201, ClinVar RCV003551022, gnomAD rs1685354796, AlphaMissense 0.08, MetaLR 0.18, Pathogenic
- Q45E (p.Gln45Glu), gnomAD rs1685354796, REVEL 0.28, ESM-1b 0.00, Pathogenic
- Q45L (p.Gln45Leu), ExAC rs749797540, TOPMed rs749797540, gnomAD rs749797540, REVEL 0.16, ESM-1b 0.00
- V46A (p.Val46Ala), TOPMed rs1054769172, gnomAD rs1054769172, REVEL 0.22, ESM-1b 0.00
- V46G (p.Val46Gly), TOPMed rs1054769172, gnomAD rs1054769172, ESM-1b 0.00, AlphaMissense 0.25
- V46L (p.Val46Leu), Ensembl rs2104783059, ESM-1b 0.00, AlphaMissense 0.36
- D47E (p.Asp47Glu), Ensembl rs2104783025, ESM-1b 0.00, AlphaMissense 0.08
- D47V (p.Asp47Val), ExAC rs777771292, gnomAD rs777771292, REVEL 0.19, ESM-1b 0.00
- E48D (p.Glu48Asp), rs149309991, ClinGen CA1858611, cosmic curated COSV99035, ClinVar RCV001133122, REVEL 0.10, ESM-1b 0.00, Uncertain significance, not provided; Xeroderma pigmentosum group B; Trichothiodystrophy 2, photosensiti
- E48G (p.Glu48Gly), rs769971648, ClinGen CA1858612, ClinVar RCV002032127, ClinVar RCV002258358, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided; Xeroderma pigmentosum
- S49* (p.Ser49Ter), rs2104783010, ClinGen CA348392173, ClinVar RCV003671621, Ensembl rs2104783010, Pathogenic
- S49A (p.Ser49Ala), Ensembl rs2104783014, ESM-1b 0.00, AlphaMissense 0.05
- S49T (p.Ser49Thr), Ensembl rs2104783014, ESM-1b 0.00, AlphaMissense 0.06
- G50D (p.Gly50Asp), Ensembl rs759337466, ESM-1b 0.00, AlphaMissense 0.09
- T51A (p.Thr51Ala), TOPMed rs1353065985, gnomAD rs1353065985, REVEL 0.10, ESM-1b 0.00
- T51I (p.Thr51Ile), TOPMed rs1685353719, ESM-1b 0.00, AlphaMissense 0.09
- V53A (p.Val53Ala), cosmic curated COSV10437, ExAC rs781589410, gnomAD rs781589410, ESM-1b 0.00, AlphaMissense 0.08
- V53M (p.Val53Met), rs2468070971, ClinGen CA348392151, ClinVar RCV004380524, REVEL 0.08, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- D54E (p.Asp54Glu), Ensembl rs2104782960, ESM-1b 0.00, AlphaMissense 0.97
- D54G (p.Asp54Gly), Ensembl rs1685353547, ESM-1b 0.00, AlphaMissense 0.92
- D54H (p.Asp54His), Ensembl rs2104782966, ESM-1b 0.00, AlphaMissense 0.99
- Y56C (p.Tyr56Cys), TOPMed rs1685353469, gnomAD rs1685353469, REVEL 0.37, ESM-1b 0.49
- G57A (p.Gly57Ala), NCI-TCGA Cosmic COSV5342, cosmic curated COSV53426, Variant assessed as somatic; moderate impact.
- A58S (p.Ala58Ser), rs587778277, ClinGen CA348392117, ClinVar RCV002222862, Ensembl rs587778277, ESM-1b 0.00, AlphaMissense 0.76, Uncertain significance, not specified
- A58T (p.Ala58Thr), rs587778277, ClinGen CA158839, ClinVar RCV000120796, Ensembl rs587778277, ESM-1b 0.00, AlphaMissense 0.76, not provided, not specified
- A58V (p.Ala58Val), 1000Genomes rs577213973, ExAC rs577213973, gnomAD rs577213973, REVEL 0.26, ESM-1b 0.00
- K59N (p.Lys59Asn), ExAC rs779898806, gnomAD rs779898806, ESM-1b 0.00, AlphaMissense 0.88, Likely benign
- K59R (p.Lys59Arg), rs2468070901, ClinGen CA2580063794, ClinVar RCV002857250, ESM-1b 0.00, AlphaMissense 0.09, Pathogenic
- D60Y (p.Asp60Tyr), Ensembl rs2104782924, ESM-1b 1.00, AlphaMissense 0.96
- Y61C (p.Tyr61Cys), ExAC rs758329360, TOPMed rs758329360, gnomAD rs758329360, REVEL 0.61, ESM-1b 1.00
- R62K (p.Arg62Lys), gnomAD rs1412591056, REVEL 0.21, ESM-1b 0.00
- R62M (p.Arg62Met), gnomAD rs1412591056, ESM-1b 1.00, AlphaMissense 0.75
- L63M (p.Leu63Met), ExAC rs764770312, gnomAD rs764770312, REVEL 0.05, ESM-1b 0.00
- Q64* (p.Gln64Ter), Ensembl rs2104782895, CADD 39.00
- Q64E (p.Gln64Glu), Ensembl rs2104782895, REVEL 0.22, ESM-1b 0.00
- Q64H (p.Gln64His), Ensembl rs2104782891, ESM-1b 0.00, AlphaMissense 0.16
- M65T (p.Met65Thr), gnomAD rs1685352525, REVEL 0.63, ESM-1b 0.00
- P66L (p.Pro66Leu), TOPMed rs1439555872, gnomAD rs1439555872, REVEL 0.13, ESM-1b 1.00
- P66Q (p.Pro66Gln), TOPMed rs1439555872, gnomAD rs1439555872, REVEL 0.04, ESM-1b 0.31
- P66R (p.Pro66Arg), TOPMed rs1439555872, gnomAD rs1439555872, REVEL 0.03, ESM-1b 0.46
- P66S (p.Pro66Ser), cosmic curated COSV10725, Ensembl rs2104782881, REVEL 0.05, ESM-1b 0.43
- L67V (p.Leu67Val), Ensembl rs2104782870, ESM-1b 1.00, AlphaMissense 0.21, Uncertain significance, not provided
- D69H (p.Asp69His), Ensembl rs2104782853, ESM-1b 1.00, AlphaMissense 0.11
- D70E (p.Asp70Glu), rs1279830695, ClinGen CA348392029, ClinVar RCV002720666, gnomAD rs1279830695, REVEL 0.60, ESM-1b 1.00, Uncertain significance, not provided
- H71D (p.His71Asp), ESP rs377255867, ExAC rs377255867, TOPMed rs377255867, gnomAD rs377255867, REVEL 0.41, ESM-1b 1.00
- H71R (p.His71Arg), gnomAD rs1258618385, REVEL 0.31, ESM-1b 1.00
- H71Y (p.His71Tyr), ESP rs377255867, ExAC rs377255867, TOPMed rs377255867, gnomAD rs377255867, REVEL 0.32, ESM-1b 1.00
- T72A (p.Thr72Ala), Ensembl rs1558965389, REVEL 0.05, ESM-1b 0.00
- T72I (p.Thr72Ile), cosmic curated COSV11343, ExAC rs763746043, TOPMed rs763746043, gnomAD rs763746043, REVEL 0.09, ESM-1b 0.73
- T72N (p.Thr72Asn), ExAC rs763746043, TOPMed rs763746043, gnomAD rs763746043, REVEL 0.09, ESM-1b 0.00, Uncertain significance, not provided
- S73A (p.Ser73Ala), rs2104782786, ClinGen CA348392014, ClinVar RCV002041244, Ensembl rs2104782786, REVEL 0.22, ESM-1b 0.00, Uncertain significance, not provided
- S73C (p.Ser73Cys), TOPMed rs1685351270, ESM-1b 1.00, AlphaMissense 0.10, Uncertain significance, Inborn genetic diseases
- S73F (p.Ser73Phe), NCI-TCGA Cosmic COSV5342, cosmic curated COSV53426, TOPMed rs1685351270, REVEL 0.46, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- P75L (p.Pro75Leu), rs553774995, ClinGen CA1858598, ClinVar RCV001863747, ClinVar RCV002256850, REVEL 0.78, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; not provided; Xeroderma pigmentosum
- P75S (p.Pro75Ser), ExAC rs774644406, gnomAD rs774644406, REVEL 0.75, ESM-1b 1.00
- P75T (p.Pro75Thr), ExAC rs774644406, gnomAD rs774644406, REVEL 0.83, ESM-1b 1.00
- L76H (p.Leu76His), Ensembl rs1685350626, ESM-1b 1.00, AlphaMissense 1.00
- L76V (p.Leu76Val), rs1685350770, ClinGen CA348391998, ClinVar RCV002012533, Ensembl rs1685350770, REVEL 0.60, ESM-1b 0.86, Uncertain significance, not provided
- W77C (p.Trp77Cys), rs201635630, ClinGen CA1858597, cosmic curated COSV53427, ClinVar RCV002727713, REVEL 0.72, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- V78G (p.Val78Gly), gnomAD rs1341880081, REVEL 0.94, ESM-1b 1.00
- V78L (p.Val78Leu), gnomAD rs1244964997, REVEL 0.61, ESM-1b 1.00
- A79D (p.Ala79Asp), gnomAD rs1391088981, REVEL 0.51, ESM-1b 1.00
- A79P (p.Ala79Pro), Ensembl rs2104781610, ESM-1b 1.00, AlphaMissense 0.99
- A79S (p.Ala79Ser), Ensembl rs2104781610, ESM-1b 1.00, AlphaMissense 0.16
- A79V (p.Ala79Val), gnomAD rs1391088981, ESM-1b 1.00, AlphaMissense 0.80
- P80T (p.Pro80Thr), TOPMed rs1685321122, ESM-1b 0.74, AlphaMissense 0.52
- D81E (p.Asp81Glu), Ensembl rs1046333193, REVEL 0.69, ESM-1b 1.00
- D81H (p.Asp81His), TOPMed rs1453017999, gnomAD rs1453017999, REVEL 0.90, ESM-1b 1.00, Uncertain significance
- D81N (p.Asp81Asn), cosmic curated COSV53429, TOPMed rs1453017999, gnomAD rs1453017999, REVEL 0.35, ESM-1b 0.00, Uncertain significance, not provided
- D81V (p.Asp81Val), Ensembl rs2104781574, ESM-1b 1.00, AlphaMissense 0.94
- D81Y (p.Asp81Tyr), TOPMed rs1453017999, gnomAD rs1453017999, ESM-1b 1.00, AlphaMissense 0.96, Uncertain significance
- G82D (p.Gly82Asp), rs1246605943, NCI-TCGA Cosmic COSV9957, cosmic curated COSV99573, gnomAD rs1246605943, ESM-1b 1.00, AlphaMissense 1.00, Variant assessed as somatic; moderate impact.
- H83N (p.His83Asn), TOPMed rs1685320553, ESM-1b 1.00, AlphaMissense 0.54
- H83P (p.His83Pro), 1000Genomes rs532415974, TOPMed rs532415974, REVEL 0.66, ESM-1b 1.00
- H83R (p.His83Arg), cosmic curated COSV10453, 1000Genomes rs532415974, TOPMed rs532415974, REVEL 0.54, ESM-1b 1.00
- I84N (p.Ile84Asn), TOPMed rs1013443416, ESM-1b 1.00, AlphaMissense 0.99
- I84S (p.Ile84Ser), TOPMed rs1013443416, ESM-1b 1.00, AlphaMissense 0.98
- F85C (p.Phe85Cys), rs767507847, ClinGen CA1858579, ClinVar RCV000287017, ClinVar RCV001850776, REVEL 0.88, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases; not provided; Xeroderma pigmentosum group B
- F85L (p.Phe85Leu), gnomAD rs1200235000, ESM-1b 1.00, AlphaMissense 0.99
- E87G (p.Glu87Gly), ExAC rs773655670, gnomAD rs773655670, REVEL 0.89, ESM-1b 1.00
- A88V (p.Ala88Val), ExAC rs762406830, gnomAD rs762406830, REVEL 0.48, ESM-1b 1.00
- F89V (p.Phe89Val), rs1004141219, ClinGen CA55342947, ClinVar RCV002782511, TOPMed rs1004141219, REVEL 0.83, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- S90C (p.Ser90Cys), cosmic curated COSV53429, gnomAD rs1275332128, REVEL 0.77, ESM-1b 1.00
- S90F (p.Ser90Phe), gnomAD rs1275332128, REVEL 0.83, ESM-1b 1.00
- P91A (p.Pro91Ala), TOPMed rs1438551749, gnomAD rs1438551749, REVEL 0.56, ESM-1b 1.00
- P91L (p.Pro91Leu), ExAC rs776911903, gnomAD rs776911903, REVEL 0.80, ESM-1b 1.00
- P91S (p.Pro91Ser), cosmic curated COSV53428, TOPMed rs1438551749, gnomAD rs1438551749, REVEL 0.67, ESM-1b 1.00
- V92L (p.Val92Leu), Ensembl rs2104781460, ESM-1b 0.60, AlphaMissense 0.28
- Y93* (p.Tyr93Ter), ESP rs146938627, ExAC rs146938627, TOPMed rs146938627, gnomAD rs146938627, CADD 26.40, Likely benign
- Y93F (p.Tyr93Phe), NCI-TCGA TCGA novel, Ensembl rs2104781452, ESM-1b 0.43, AlphaMissense 0.16, Variant assessed as somatic; moderate impact.
- Y93H (p.Tyr93His), ExAC rs768763299, TOPMed rs768763299, gnomAD rs768763299, ESM-1b 1.00, AlphaMissense 0.43
- Y93N (p.Tyr93Asn), ExAC rs768763299, TOPMed rs768763299, gnomAD rs768763299, REVEL 0.80, ESM-1b 1.00
- K94R (p.Lys94Arg), rs1371373080, gnomAD rs1371373080, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- Y95C (p.Tyr95Cys), rs2468068048, ClinGen CA348391859, ClinVar RCV002715939, REVEL 0.69, ESM-1b 0.74, Uncertain significance, not provided
Public ERCC3 analysis runs
- ERCC3 analysis run — ERCC3 (1,391 variants) — completed 2026-10-09