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.G289V

c.866G>T

Surrounding Variants

1 paper

NM_000124.4

p.G289R

c.865G>C

1 paper

NM_000124.4

p.Q288R

c.863A>G

1 paper

NM_000124.4

p.K287E

c.859A>G

2 papers

NM_000124.4

p.K286N

c.858G>T

2 papers

NM_000124.4

p.K286N

c.858G>C

1 paper

NM_000124.4

p.K286*

c.856A>T

2 papers

NM_000124.4

p.E284*

c.850G>T

1 paper

NM_000124.4

p.S282P

c.844T>C

1 paper

NM_000124.4

p.A298insFs

c.892_893insA

1 paper

NM_000124.4

p.A298V

c.893C>T

2 papers

NM_000124.4

p.Q278E

c.832C>G

1 paper

NM_000124.4

p.P301L

c.902C>T