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.R464W

c.1390C>T

Surrounding Variants

2 papers

NM_000124.4

p.Q463H

c.1389G>T

2 papers

NM_000124.4

p.Q463H

c.1389G>C

5 papers

NM_000124.4

p.Q463*

c.1387C>T

1 paper

NM_000124.4

p.K462E

c.1384A>G

3 papers

NM_000124.4

p.R466Splc

c.1397+2T>A

1 paper

NM_000124.4

p.D457E

c.1371T>A

1 paper

NM_000124.4

p.D454_D455ins4

c.1360_1364ins12

1 paper

NM_000124.4

p.D454_D455ins11

c.1360_1364ins33

1 paper

NM_000124.4

p.R453R

c.1359A>C

11 papers

NM_000124.4

p.R453*

c.1357C>T

1 paper

NM_000124.4

p.R453G

c.1357C>G

1 paper

NM_000124.4

p.R451K

c.1352G>A