Unique variants in the ERCC5 gene

Information The variants shown are described using the NM_000123.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 1 c.31G>T r.(?) p.(Glu11*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.103498647G>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000002 - Y Yang
./. 1 1 c.46C>T r.(?) p.(Gln16*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.103498662C>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000003 - Y Yang
./. 1 1 c.83C>A r.(?) p.(Ala28Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.103498699C>A Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000004 - Y Yang
./. 1 2 c.194T>C r.(?) p.(Leu65Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.103504573T>C Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000005 - Y Yang
./. 1 2 c.215C>A r.(?) p.(Pro72His) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.103504594C>A Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000006 - Y Yang
./. 1 4 c.406C>T r.(?) p.(Gln136*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.103506663C>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000007 - Y Yang
./. 1 5 c.526C>T r.(?) p.(Gln176*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.103508460C>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000008 - Y Yang
./. 1 7 c.787C>T r.(?) p.(Arg263*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.103513971C>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000009 - Y Yang
./. 1 8 c.922_923del r.(?) p.(Leu308Serfs*12) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.103514421_103514422del Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000016 - Y Yang
./. 1 8 c.1115_1118del r.(?) p.(Arg372Thrfs*6) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.103514614_103514617del Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000017 - Y Yang
./. 1 8 c.1494del r.(?) p.(Asp499Ilefs*24) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.103514993del Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000018 - Y Yang
./. 1 9 c.1975del r.(?) p.(Ser659Valfs*2) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.103518037del Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000019 - Y Yang
./. 1 11 c.2375C>T r.(?) p.(Ala792Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.103519037C>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000010 - Y Yang
./. 2 11 c.2392G>T r.(?) p.(Asp798Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.103519054G>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014), 1 more item ERCC5_000001 - Y Yang
./. 1 12 c.2573T>C r.(?) p.(Leu858Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.103520502T>C Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000011 - Y Yang
./. 1 12 c.2606_2607del r.(?) p.(Val869Glyfs*11) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.103520535_103520536del Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000020 - Y Yang
./. 1 12 c.2620G>A r.(?) p.(Ala874Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.103520549G>A Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000012 - Y Yang
./. 1 13 c.2751del r.(?) p.(Lys917Asnfs*65) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.103524620del Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000021 - Y Yang
./. 2 13 c.2766dup r.(?) p.(Leu923Thrfs*7) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel g.103524635dup Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000015 - Y Yang
./. 1 13 c.2775del r.(?) p.(Gly926Alafs*56) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.103524644del Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000022 - Y Yang
./. 1 14 c.2878G>T r.(?) p.(Glu960*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.103524747G>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000013 - Y Yang
./. 1 14 c.2880_2881del r.(?) p.(Glu960Aspfs*15) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.103525609_103525610del Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000023 - Y Yang
./. 1 14 c.2904G>T r.(?) p.(Trp968Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.103525633G>T Drury S1, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.(2014) ERCC5_000014 - Y Yang
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