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

3 papers

NM_000082.4

p.G184Splc

c.551-2A>C

Surrounding Variants

10 papers

NM_000082.4

p.G184Splc

c.551-1G>A

1 paper

NM_000082.4

p.G184D

c.551G>A

1 paper

NM_000082.4

p.R186K

c.557G>A

1 paper

NM_000082.4

p.H185_Q187Fs

c.554_559delinsTGTGFs

1 paper

NM_000082.4

p.A191_V192del1

c.572_574delCTG

6 papers

NM_000082.4

p.W194*

c.581G>A

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

1 paper

NM_000082.4

p.S195A

c.583T>G

1 paper

NM_000082.4

p.A191_S195del5

c.571_584del15

1 paper

NM_000082.4

p.P196L

c.587C>T