All variants in the ERCC8 gene

Information The variants shown are described using the NM_000082.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 c.2_3insA r.? p.? VariO:0142 DNA insertion - g.60240833_60240834insT Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000002 - Y Yang
./. 1 c.37G>T r.(?) p.(Glu13*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.60240799C>A Cao H1, Williams C, Carter M, Hegele RA.(2004) ERCC8_000001 - Y Yang
./. 2 c.79_276del198 r.(?) p.(Val27_Arg92del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion g.60214215_60224785del198 Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000019 - Y Yang
./. 2i c.173+1046A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.60223645T>C Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000013 - Y Yang
./. 4 c.300C>A r.(?) p.(Tyr100*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.60214191G>T Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000004 - Y Yang
./. 4 c.313_314delGT r.(?) p.(Val105Thrfs*6) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.60214177_60214178delAC Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000003 - Y Yang
./. 4 c.317A>C r.(?) p.(Gln106Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.60214174T>G Ren Y1, Saijo M, Nakatsu Y, Nakai H, Yamaizumi M, Tanaka K.(2003) ERCC8_000005 - Y Yang
./. 4 c.394_398delTTACA r.(?) p.(Leu132Asnfs*6) - - g.60214093_60214097delTGTAA Cui YP et al. (2015) ERCC8_000023 - XY Liu
./. 4 c.394_398delTTACA r.(?) p.(Leu132Asnfs*6) - - g.60214093_60214097delTGTAA Gu Y et al. (2017) ERCC8_000023 - XY Liu
./. 4i c.399+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.60214091C>T Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000014 - Y Yang
./. 5 c.479C>T r.(?) p.(Ala160Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.60200621G>A Ridley AJ1, Colley J, Wynford-Thomas D, Jones CJ.(2005) ERCC8_000006 - Y Yang
./. 6i c.551-2A>C r.(=) p.(=) - - g.60198337T>G Cui YP et al. (2015) ERCC8_000022 - XY Liu
./. 6i c.551-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.60198336C>T Kleppa L1, Kanavin ?J, Klungland A, Str?mme P.(2007) ERCC8_000015 - Y Yang
./. 6i c.551-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.60198336C>T Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000015 - Y Yang
./. 7 c.582G>T r.(?) p.(Trp194Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.60198304C>A Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000007 - Y Yang
./. 7 c.598delinsAA r.(?) p.(Tyr200Lysfs*9) VariO:0143 DNA indel VariO:0023 amphigoric amino acid indel g.60198288delinsTT Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000016 - Y Yang
./. 7 c.605T>C r.(?) p.(Leu202Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.60198281A>G Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000008 - Y Yang
./. 7 c.613G>C r.(?) p.(Ala205Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.60198273C>G Cao H1, Williams C, Carter M, Hegele RA.(2004) ERCC8_000009 - Y Yang
./. 7 c.618-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.60195555C>T Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000017 - Y Yang
./. 9 c.797A>G r.(?) p.(Asp266Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.60194149T>C Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000010 - Y Yang
./. 9 c.800_1078del279 r.(?) p.(Asn267_Ala360delinsThr) VariO:0141 DNA deletion VariO:0029 sequence retaining amino acid indel g.60183311_60194146del279 Henning KA1, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC.(1995) ERCC8_000020 - Y Yang
./. 9_9i c.842_843+1delinsCTA r.spl? p.? - - g.60194102_60194104delinsTAG Gu Y et al. (2017) ERCC8_000024 - XY Liu
./. 9i c.843+5G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - g.60194098C>G Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000018 - Y Yang
./. 10 c.966C>A r.(?) p.(Tyr322*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.60186791G>T Henning KA1, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC.(1995) ERCC8_000011 - Y Yang
./. 11 c.1078_1158del81 r.(?) p.(Ala360_Glu386del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion g.60170475_60183311del81 Henning KA1, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC.(1995) ERCC8_000021 - Y Yang
./. 11 c.1083G>T r.(?) p.(Trp361Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.60183306C>A Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010) ERCC8_000012 - Y Yang
Legend   How to query