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.V137L

c.409G>C

Surrounding Variants

1 paper

NM_000082.4

p.V137L

c.409G>T

1 paper

NM_000082.4

p.F138L

c.412T>C

1 paper

NM_000082.4

p.D136H

c.406G>C

1 paper

NM_000082.4

p.F138S

c.413T>C

1 paper

NM_000082.4

p.F138L

c.414T>G

1 paper

NM_000082.4

p.F138L

c.414T>A

1 paper

NM_000082.4

p.T134I

c.401C>T

2 papers

NM_000082.4

p.T134fs

c.400_401fs

2 papers

NM_000082.4

p.Q133_T134Splc

c.400-1G>A

3 papers

NM_000082.4

p.Q133_T134Splc

c.400-2A>G

1 paper

NM_000082.4

p.E142K

c.424G>A

1 paper

NM_000082.4

p.T143fs

c.427_428fs