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.H156Y

c.466C>T

Surrounding Variants

1 paper

NM_000082.4

p.H156L

c.467A>T

1 paper

NM_000082.4

p.C157C

c.471T>C

1 paper

NM_000082.4

p.T154S

c.461C>G

1 paper

NM_000082.4

p.V152_T154insFs

c.454_460dup7

1 paper

NM_000082.4

p.T154fs

c.460_461fs

1 paper

NM_000082.4

p.T154S

c.460A>T

1 paper

NM_000082.4

p.T154A

c.460A>G

6 papers

NM_000082.4

p.A160T

c.478G>A

11 papers

NM_000082.4

p.A160V

c.479C>T

1 paper

NM_000082.4

p.V161I

c.481G>A

1 paper

NM_000082.4

p.V161Splc

c.481+1G>A

1 paper

NM_000082.4

p.H147R

c.440A>G