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

13 papers

NM_000124.4

p.Q723*

c.2167C>T

Surrounding Variants

3 papers

NM_000124.4

p.Q723_V724Splc

c.2169+1G>A

1 paper

NM_000124.4

p.Q723del1

c.2167_2168delCTG

1 paper

NM_000124.4

p.P721L

c.2162C>T

1 paper

NM_000124.4

p.G715fs

c.2143_2144fs

1 paper

NM_000124.4

p.G715delFs

c.2144delC

4 papers

NM_000124.4

p.G715*

c.2143G>T

1 paper

NM_000124.4

p.G714R

c.2140G>C

1 paper

NM_000124.4

p.G714R

c.2140G>A

2 papers

NM_000124.4

p.M713V

c.2137A>G

2 papers

NM_000124.4

p.V709I

c.2125G>A

1 paper

NM_000124.4

p.S708S

c.2124C>T

1 paper

NM_000124.4

p.S708F

c.2123C>T