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.L281_V282Splc

c.843+2T>G

Surrounding Variants

4 papers

NM_000082.4

p.L281_V282Splc

c.843+2T>C

1 paper

NM_000082.4

p.L281_V282Splc

c.843+2T>A

5 papers

NM_000082.4

p.L281_V282Splc

c.843+1G>C

4 papers

NM_000082.4

p.L281_V282Splc

c.843+5G>C

11 papers

NM_000082.4

p.T280K

c.839C>A

1 paper

NM_000082.4

p.N279Y

c.835A>T

1 paper

NM_000082.4

p.N273S

c.818A>G

1 paper

NM_000082.4

p.W272*

c.816G>A

1 paper

NM_000082.4

p.W272*

c.815G>A

1 paper

NM_000082.4

p.L271P

c.812T>C

4 papers

NM_000082.4

p.R268*

c.802C>T

11 papers

NM_000082.4

p.D266G

c.797A>G