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.L92L

c.276G>A

Surrounding Variants

1 paper

NM_000124.4

p.L95S

c.284T>C

1 paper

NM_000124.4

p.G94delFs

c.282delA

1 paper

NM_000124.4

p.V97V

c.291G>A

1 paper

NM_000124.4

p.D98V

c.293A>T

1 paper

NM_000124.4

p.V99I

c.295G>A

2 papers

NM_000124.4

p.V99A

c.296T>C

2 papers

NM_000124.4

p.Y100*

c.300T>G

2 papers

NM_000124.4

p.Y100*

c.300T>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.E84K

c.250G>A

1 paper

NM_000124.4

p.V83G

c.248T>G