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.R352W

c.1054A>T

Surrounding Variants

1 paper

NM_000124.4

p.A351delFs

c.1053delT

1 paper

NM_000124.4

p.R352R

c.1056G>A

1 paper

NM_000124.4

p.K350R

c.1049A>G

1 paper

NM_000124.4

p.P349P

c.1047A>G

1 paper

NM_000124.4

p.G347delFs

c.1040delC

2 papers

NM_000124.4

p.S357*

c.1070C>G

2 papers

NM_000124.4

p.S357*

c.1070C>A

4 papers

NM_000124.4

p.K345_V346insFs

c.1035_1036insT

1 paper

NM_000124.4

p.K345fs

c.1033_1034fs

2 papers

NM_000124.4

p.K345insFs

c.1034_1035insT

1 paper

NM_000124.4

p.M359L

c.1075A>T

3 papers

NM_000124.4

p.K345fs

c.1033_1034fs