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.I332V

c.994A>G

Surrounding Variants

1 paper

NM_000124.4

p.K333R

c.998A>G

1 paper

NM_000124.4

p.K330R

c.989A>G

2 papers

NM_000124.4

p.R327H

c.980G>A

8 papers

NM_000124.4

p.K337*

c.1009A>T

1 paper

NM_000124.4

p.E326K

c.976G>A

1 paper

NM_000124.4

p.E325fs

c.973_974fs

2 papers

NM_000124.4

p.K324insFs

c.972dupA

1 paper

NM_000124.4

p.A339T

c.1015G>A

1 paper

NM_000124.4

p.K324delFs

c.972delT

1 paper

NM_000124.4

p.L340L

c.1018T>C

2 papers

NM_000124.4

p.S322S

c.966C>A

1 paper

NM_000124.4

p.Q341delFs

c.1021_1022delTG