Transcript #00000038 (NM_000082.3, ERCC8 gene)

Transcript name excision repair cross-complementing rodent repair deficiency, complementation group 8
Gene name ERCC8 (excision repair cross-complementation group 8)
Chromosome 5
Transcript - NCBI ID NM_000082.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000073.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 1 c.2_3insA r.? p.? VariO:0142 DNA insertion -
./. 1 c.37G>T r.(?) p.(Glu13*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
./. 2 c.79_276del198 r.(?) p.(Val27_Arg92del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion
./. 2i c.173+1046A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 4 c.300C>A r.(?) p.(Tyr100*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
./. 4 c.313_314delGT r.(?) p.(Val105Thrfs*6) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
./. 4 c.317A>C r.(?) p.(Gln106Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 4 c.394_398delTTACA r.(?) p.(Leu132Asnfs*6) - -
./. 4 c.394_398delTTACA r.(?) p.(Leu132Asnfs*6) - -
./. 4i c.399+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 5 c.479C>T r.(?) p.(Ala160Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
./. 6i c.551-2A>C r.(=) p.(=) - -
./. 6i c.551-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 6i c.551-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 7 c.582G>T r.(?) p.(Trp194Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 7 c.598delinsAA r.(?) p.(Tyr200Lysfs*9) VariO:0143 DNA indel VariO:0023 amphigoric amino acid indel
./. 7 c.605T>C r.(?) p.(Leu202Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
./. 7 c.613G>C r.(?) p.(Ala205Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 7 c.618-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 9 c.797A>G r.(?) p.(Asp266Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 9 c.800_1078del279 r.(?) p.(Asn267_Ala360delinsThr) VariO:0141 DNA deletion VariO:0029 sequence retaining amino acid indel
./. 9_9i c.842_843+1delinsCTA r.spl? p.? - -
./. 9i c.843+5G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion -
./. 10 c.966C>A r.(?) p.(Tyr322*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
./. 11 c.1078_1158del81 r.(?) p.(Ala360_Glu386del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion
./. 11 c.1083G>T r.(?) p.(Trp361Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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