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

4 papers

NM_000082.4

p.C339*

c.1017C>A

Surrounding Variants

2 papers

NM_000082.4

p.C339Y

c.1016G>A

1 paper

NM_000082.4

p.D338N

c.1012G>A

1 paper

NM_000082.4

p.N345insFs

c.1034_1035insT

1 paper

NM_000082.4

p.Q347*

c.1039C>T

1 paper

NM_000082.4

p.Q347Q

c.1041G>A

3 papers

NM_000082.4

p.Q347_E348Splc

c.1041+1G>T

1 paper

NM_000082.4

p.T328S

c.983C>G

1 paper

NM_000082.4

p.T328S

c.982A>T

1 paper

NM_000082.4

p.G324insFs

c.972dupA

1 paper

NM_000082.4

p.G324V

c.971G>T

14 papers

NM_000082.4

p.Y322*

c.966C>G

15 papers

NM_000082.4

p.Y322*

c.966C>A