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.V369L

c.1105G>C

Surrounding Variants

1 paper

NM_000082.4

p.D371H

c.1111G>C

3 papers

NM_000082.4

p.P370_D371del2

c.1108_1112del6

2 papers

NM_000082.4

p.E374D

c.1122G>T

4 papers

NM_000082.4

p.E374D

c.1122G>C

2 papers

NM_000082.4

p.E374_T375Splc

c.1122+1G>A

1 paper

NM_000082.4

p.V362delFs

c.1084delC

19 papers

NM_000082.4

p.W361C

c.1083G>T

18 papers

NM_000082.4

p.W361C

c.1083G>C

1 paper

NM_000082.4

p.W361*

c.1083G>A

1 paper

NM_000082.4

p.W361*

c.1082G>A

2 papers

NM_000082.4

p.A360A

c.1080T>C

1 paper

NM_000082.4

p.I358insFs

c.1072_1073insT