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.A21P

c.61G>C

Surrounding Variants

1 paper

NM_000082.4

p.E22K

c.64G>A

1 paper

NM_000082.4

p.E22A

c.65A>C

1 paper

NM_000082.4

p.R19L

c.56G>T

1 paper

NM_000082.4

p.D14_L18delFs

c.42_52del11

1 paper

NM_000082.4

p.S23delFs

c.68_69delTG

4 papers

NM_000082.4

p.T24insFs

c.70dupA

1 paper

NM_000082.4

p.R26fs

c.76_77fs

1 paper

NM_000082.4

p.L16V

c.46C>G

1 paper

NM_000082.4

p.D14insFs

c.40_41ins16

1 paper

NM_000082.4

p.E13D

c.39G>T

2 papers

NM_000082.4

p.E13D

c.39G>C

24 papers

NM_000082.4

p.E13*

c.37G>T