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.P2S

c.4C>T

Surrounding Variants

1 paper

NM_000124.4

p.M1R

c.2T>G

1 paper

NM_000124.4

p.M1K

c.2T>A

1 paper

NM_000124.4

p.N3T

c.8A>C

1 paper

NM_000124.4

p.E4D

c.12G>C

1 paper

NM_000124.4

p.I6insFs

c.16_17insA

1 paper

NM_000124.4

p.P7insFs

c.21dupC

1 paper

NM_000124.4

p.Q11Q

c.33A>G

1 paper

NM_000124.4

p.T12A

c.34A>G

1 paper

NM_000124.4

p.T12P

c.34A>C

1 paper

NM_000124.4

p.T12I

c.35C>T

1 paper

NM_000124.4

p.Q13E

c.37C>G

1 paper

NM_000124.4

p.Q13H

c.39G>C