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.L281_V282Splc

c.844-2A>G

Surrounding Variants

1 paper

NM_000082.4

p.V282fs

c.844_845fs

1 paper

NM_000082.4

p.Y284delFs

c.852delA

2 papers

NM_000082.4

p.K286*

c.856A>T

1 paper

NM_000082.4

p.C288S

c.862T>A

1 paper

NM_000082.4

p.C288_N289insFs

c.864_865insT

1 paper

NM_000082.4

p.G294E

c.881G>A

1 paper

NM_000082.4

p.F297Y

c.890T>A

1 paper

NM_000082.4

p.L281_V282Splc

c.844-62G>T

1 paper

NM_000082.4

p.S304N

c.911G>A

1 paper

NM_000082.4

p.F309fs

c.925_926fs

2 papers

NM_000082.4

p.F309delFs

c.927delA

1 paper

NM_000082.4

p.G313V

c.938G>T