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

1–12 of 909 variants

51 papers

NM_000124.4

p.M1097V

c.3289A>G

34 papers

NM_000124.4

p.R1230P

c.3689G>C

31 papers

NM_000124.4

p.Q1413R

c.4238A>G

28 papers

NM_000124.4

p.R670W

c.2008C>T

26 papers

NM_000124.4

p.R1213G

c.3637A>G

22 papers

NM_000124.4

p.G399D

c.1196G>A

21 papers

NM_000124.4

p.R735*

c.2203C>T

20 papers

NM_000124.4

p.W851R

c.2551T>C

20 papers

NM_000124.4

p.W851R

c.2551T>A

18 papers

NM_000124.4

p.R666C

c.1996C>T

16 papers

NM_000124.4

p.R77*

c.229C>T

15 papers

NM_000124.4

p.R1288*

c.3862C>T