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

2 papers

NM_000124.4

p.K1172*

c.3514A>T

Surrounding Variants

2 papers

NM_000124.4

p.N1171insFs

c.3513dupT

1 paper

NM_000124.4

p.E1170V

c.3509A>T

1 paper

NM_000124.4

p.W1169R

c.3505T>C

1 paper

NM_000124.4

p.F1168_W1169ins5

c.3502_3506ins15

2 papers

NM_000124.4

p.Y1179fs

c.3535_3536fs

2 papers

NM_000124.4

p.Y1179delFs

c.3535delA

3 papers

NM_000124.4

p.Y1179fs

c.3535_3536fs

6 papers

NM_000124.4

p.Y1179delFs

c.3536delT

1 paper

NM_000124.4

p.S1161R

c.3483C>G

1 paper

NM_000124.4

p.S1161R

c.3483C>A

1 paper

NM_000124.4

p.S1161T

c.3482G>C

1 paper

NM_000124.4

p.S1161delins

c.3481_3482delinsCC