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

2 papers

NM_000082.4

p.Y200C

c.599A>G

Surrounding Variants

2 papers

NM_000082.4

p.Y200fs

c.598_599fs

9 papers

NM_000082.4

p.Y200Fs

c.598_600delinsAAFs

2 papers

NM_000082.4

p.Y200insFs

c.600dupT

3 papers

NM_000082.4

p.L202S

c.605T>C

1 paper

NM_000082.4

p.P196L

c.587C>T

8 papers

NM_000082.4

p.T204K

c.611C>A

1 paper

NM_000082.4

p.A191_S195del5

c.571_584del15

15 papers

NM_000082.4

p.A205P

c.613G>C

1 paper

NM_000082.4

p.S195A

c.583T>G

3 papers

NM_000082.4

p.W194C

c.582G>T

4 papers

NM_000082.4

p.W194C

c.582G>C

6 papers

NM_000082.4

p.W194*

c.582G>A