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.Y145*

c.435T>G

Surrounding Variants

2 papers

NM_000082.4

p.Y145Y

c.435T>C

1 paper

NM_000082.4

p.Y145*

c.435T>A

2 papers

NM_000082.4

p.V144I

c.430G>A

1 paper

NM_000082.4

p.H147R

c.440A>G

1 paper

NM_000082.4

p.T143delFs

c.427delT

1 paper

NM_000082.4

p.T143fs

c.427_428fs

1 paper

NM_000082.4

p.E142K

c.424G>A

1 paper

NM_000082.4

p.F138L

c.414T>G

1 paper

NM_000082.4

p.F138L

c.414T>A

1 paper

NM_000082.4

p.F138S

c.413T>C

1 paper

NM_000082.4

p.F138L

c.412T>C

1 paper

NM_000082.4

p.T154fs

c.460_461fs