Varaico: Literature-Extracted Genetic Variants

ERCC8

260 papers

RefSeq Summary

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this ...

Pfam Domains

WD40aa 34–70UCSCWD domain, G-beta repeat

WD40aa 93–128UCSCWD domain, G-beta repeat

WD40aa 176–215UCSCWD domain, G-beta repeat

WD40aa 235–273UCSCWD domain, G-beta repeat

WD40aa 324–361UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

HGNC Previous Symbol

CKN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000082.4

p.S255G

c.763A>G

Surrounding Variants

1 paper

NM_000082.4

p.C252_F253delFs

c.755_759del5

8 papers

NM_000082.4

p.G257R

c.769G>C

10 papers

NM_000082.4

p.G257R

c.769G>A

1 paper

NM_000082.4

p.C252fs

c.754_755fs

1 paper

NM_000082.4

p.L258F

c.772C>T

1 paper

NM_000082.4

p.L258I

c.772C>A

1 paper

NM_000082.4

p.G250V

c.749G>T

2 papers

NM_000082.4

p.T265P

c.793A>C

1 paper

NM_000082.4

p.H244R

c.731A>G

4 papers

NM_000082.4

p.H244Y

c.730C>T

11 papers

NM_000082.4

p.D266G

c.797A>G

3 papers

NM_000082.4

p.D266A

c.797A>C