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.F309delFs

c.927delA

Surrounding Variants

1 paper

NM_000082.4

p.F309fs

c.925_926fs

1 paper

NM_000082.4

p.G313V

c.938G>T

1 paper

NM_000082.4

p.S304N

c.911G>A

1 paper

NM_000082.4

p.A317P

c.949G>C

1 paper

NM_000082.4

p.V318D

c.953T>A

1 paper

NM_000082.4

p.T320_V321ins4

c.958_962ins12

1 paper

NM_000082.4

p.T320K

c.959C>A

1 paper

NM_000082.4

p.F297Y

c.890T>A

14 papers

NM_000082.4

p.Y322*

c.966C>G

15 papers

NM_000082.4

p.Y322*

c.966C>A

1 paper

NM_000082.4

p.G324V

c.971G>T

1 paper

NM_000082.4

p.G324insFs

c.972dupA