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.E103A

c.308A>C

Surrounding Variants

1 paper

NM_000082.4

p.T104fs

c.310_311fs

2 papers

NM_000082.4

p.V105fs

c.313_314fs

6 papers

NM_000082.4

p.V105delFs

c.313_314delAC

1 paper

NM_000082.4

p.Q106*

c.316C>T

8 papers

NM_000082.4

p.Y100*

c.300C>G

3 papers

NM_000082.4

p.Y100insFs

c.299_300insA

7 papers

NM_000082.4

p.Y100*

c.300C>A

1 paper

NM_000082.4

p.Y100F

c.299A>T

10 papers

NM_000082.4

p.Q106P

c.317A>C

1 paper

NM_000082.4

p.R99Fs

c.297delinsTGFs

3 papers

NM_000082.4

p.R99Fs

c.295_297delinsTGFs

1 paper

NM_000082.4

p.W107insFs

c.320_321ins4