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

5 papers

NM_000082.4

p.Q133_T134Splc

c.399+1G>A

Surrounding Variants

1 paper

NM_000082.4

p.Q133_T134Splc

c.399+1G>T

17 papers

NM_000082.4

p.L132_Q133delFs

c.394_398del5

2 papers

NM_000082.4

p.Q133*

c.397C>T

2 papers

NM_000082.4

p.L132fs

c.394_395fs

7 papers

NM_000082.4

p.L132fs

c.394_395fs

1 paper

NM_000082.4

p.L124del1

c.370_371delCAG

3 papers

NM_000082.4

p.L124delFs

c.370_371delAG

2 papers

NM_000082.4

p.L124fs

c.370_371fs

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