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.K751E

c.2251A>G

Surrounding Variants

4 papers

NM_000124.4

p.K751Q

c.2251A>C

2 papers

NM_000124.4

p.D749delFs

c.2247delA

2 papers

NM_000124.4

p.M752V

c.2254A>G

2 papers

NM_000124.4

p.D749fs

c.2245_2246fs

1 paper

NM_000124.4

p.S753G

c.2257A>G

1 paper

NM_000124.4

p.K747N

c.2241G>C

1 paper

NM_000124.4

p.M746I

c.2238G>T

1 paper

NM_000124.4

p.M746I

c.2238G>C

1 paper

NM_000124.4

p.M746I

c.2238G>A

1 paper

NM_000124.4

p.M746T

c.2237T>C

1 paper

NM_000124.4

p.L756V

c.2266T>G

1 paper

NM_000124.4

p.Y741_R744del0

c.2222_2230del9