Varaico: Literature-Extracted Genetic Variants

ERCC6

789 papers

RefSeq Summary

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and exc...

Pfam Domains

SNF2-rel_domaa 510–811UCSCSNF2-related domain

DDE_Tnp_1_7aa 609–967UCSCTransposase IS4

Helicase_Caa 839–952UCSCHelicase conserved C-terminal domain

WHD_Rad26_CSBaa 1425–1493UCSCRad26/CSB winged helix DNA-binding domain

Gene Aliases

HGNC Name

ERCC excision repair 6, chromatin remodeling factor

HGNC Previous Symbol

CKN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000124.4

p.D386E

c.1158C>A

Surrounding Variants

4 papers

NM_000124.4

p.D386E

c.1158C>G

1 paper

NM_000124.4

p.E387*

c.1159G>T

1 paper

NM_000124.4

p.D386V

c.1157A>T

1 paper

NM_000124.4

p.G390insFs

c.1168_1169ins5

2 papers

NM_000124.4

p.E379*

c.1135G>T

1 paper

NM_000124.4

p.D394D

c.1182C>T

1 paper

NM_000124.4

p.T377T

c.1131A>T

1 paper

NM_000124.4

p.P376delFs

c.1128delG

2 papers

NM_000124.4

p.T377fs

c.1129_1130fs

1 paper

NM_000124.4

p.P376delins

c.1126_1127delinsTT

1 paper

NM_000124.4

p.G399C

c.1195G>T

22 papers

NM_000124.4

p.G399D

c.1196G>A