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

1 paper

NM_000124.4

p.G399C

c.1195G>T

Surrounding Variants

22 papers

NM_000124.4

p.G399D

c.1196G>A

1 paper

NM_000124.4

p.D394_D398del5

c.1180_1193del15

3 papers

NM_000124.4

p.Y402H

c.1204T>C

1 paper

NM_000124.4

p.E403K

c.1207G>A

1 paper

NM_000124.4

p.D394D

c.1182C>T

1 paper

NM_000124.4

p.E403delFs

c.1209delC

1 paper

NM_000124.4

p.L407V

c.1219C>G

1 paper

NM_000124.4

p.G390insFs

c.1168_1169ins5

1 paper

NM_000124.4

p.G410C

c.1228G>T

1 paper

NM_000124.4

p.G410S

c.1228G>A

1 paper

NM_000124.4

p.G410A

c.1229G>C

2 papers

NM_000124.4

p.G410D

c.1229G>A