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.Q106_W107insFs

c.317_320dup4

Surrounding Variants

1 paper

NM_000082.4

p.W107C

c.321G>T

1 paper

NM_000082.4

p.W107fs

c.319_320fs

1 paper

NM_000082.4

p.W107C

c.321G>C

3 papers

NM_000082.4

p.W107*

c.321G>A

1 paper

NM_000082.4

p.W107insFs

c.320_321ins4

3 papers

NM_000082.4

p.W107*

c.320G>A

1 paper

NM_000082.4

p.Y108*

c.324T>G

1 paper

NM_000082.4

p.Y108*

c.324T>A

1 paper

NM_000082.4

p.P109S

c.325C>T

10 papers

NM_000082.4

p.Q106P

c.317A>C

1 paper

NM_000082.4

p.Q106*

c.316C>T

6 papers

NM_000082.4

p.V105delFs

c.313_314delAC