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.Q79R

c.236A>G

Surrounding Variants

2 papers

NM_000124.4

p.R77_H78delFs

c.229_232del4

1 paper

NM_000124.4

p.R77fs

c.229_230fs

1 paper

NM_000124.4

p.R77Q

c.230G>A

16 papers

NM_000124.4

p.R77*

c.229C>T

1 paper

NM_000124.4

p.I75_D76delFs

c.223_227del5

1 paper

NM_000124.4

p.V83I

c.247G>A

1 paper

NM_000124.4

p.V83G

c.248T>G

1 paper

NM_000124.4

p.E84K

c.250G>A

1 paper

NM_000124.4

p.E84V

c.251A>T

1 paper

NM_000124.4

p.E84G

c.251A>G

1 paper

NM_000124.4

p.L72L

c.216G>A

1 paper

NM_000124.4

p.A71delFs

c.212delG