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.K1137Q

c.3409A>C

Surrounding Variants

5 papers

NM_000124.4

p.N1131D

c.3391A>G

1 paper

NM_000124.4

p.S1146ins1

c.3437_3438insAAG

1 paper

NM_000124.4

p.D1148V

c.3443A>T

1 paper

NM_000124.4

p.E1149delFs

c.3446delT

1 paper

NM_000124.4

p.G1152V

c.3455G>T

1 paper

NM_000124.4

p.G1152G

c.3456T>G

3 papers

NM_000124.4

p.E1119V

c.3356A>T

3 papers

NM_000124.4

p.E1119Q

c.3355G>C

1 paper

NM_000124.4

p.Y1155*

c.3465C>G

1 paper

NM_000124.4

p.Y1155*

c.3465C>A

1 paper

NM_000124.4

p.E1118K

c.3352G>A

1 paper

NM_000124.4

p.R1159S

c.3477A>T