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

14 papers

NM_000082.4

p.Y322*

c.966C>G

Surrounding Variants

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

1 paper

NM_000082.4

p.T320K

c.959C>A

1 paper

NM_000082.4

p.T320_V321ins4

c.958_962ins12

1 paper

NM_000082.4

p.V318D

c.953T>A

1 paper

NM_000082.4

p.T328S

c.982A>T

1 paper

NM_000082.4

p.A317P

c.949G>C

1 paper

NM_000082.4

p.T328S

c.983C>G

1 paper

NM_000082.4

p.G313V

c.938G>T

2 papers

NM_000082.4

p.F309delFs

c.927delA

1 paper

NM_000082.4

p.F309fs

c.925_926fs