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.L124fs

c.370_371fs

Surrounding Variants

3 papers

NM_000082.4

p.L124delFs

c.370_371delAG

1 paper

NM_000082.4

p.L124del1

c.370_371delCAG

1 paper

NM_000082.4

p.D121H

c.361G>C

1 paper

NM_000082.4

p.F120I

c.358T>A

2 papers

NM_000082.4

p.S119L

c.356C>T

1 paper

NM_000082.4

p.S119*

c.356C>G

1 paper

NM_000082.4

p.S119*

c.356C>A

1 paper

NM_000082.4

p.T116_S118del0

c.346_354del9

2 papers

NM_000082.4

p.S118N

c.353G>A

2 papers

NM_000082.4

p.S117*

c.350C>G

2 papers

NM_000082.4

p.S117*

c.350C>A

7 papers

NM_000082.4

p.L132fs

c.394_395fs