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.A1395D

c.4184C>A

Surrounding Variants

1 paper

NM_000124.4

p.R1394delFs

c.4180delT

1 paper

NM_000124.4

p.R1394fs

c.4180_4181fs

1 paper

NM_000124.4

p.M1393I

c.4179G>T

1 paper

NM_000124.4

p.M1393I

c.4179G>C

1 paper

NM_000124.4

p.M1393I

c.4179G>A

1 paper

NM_000124.4

p.R1404C

c.4210C>T

2 papers

NM_000124.4

p.R1404H

c.4211G>A

1 paper

NM_000124.4

p.S1386F

c.4157C>T

2 papers

NM_000124.4

p.E1406K

c.4216G>A

8 papers

NM_000124.4

p.E1408A

c.4223A>C

1 paper

NM_000124.4

p.S1381S

c.4143C>T

1 paper

NM_000124.4

p.G1410R

c.4228G>C