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.G445A

c.1334G>C

Surrounding Variants

1 paper

NM_000124.4

p.G446S

c.1336G>A

1 paper

NM_000124.4

p.G446V

c.1337G>T

6 papers

NM_000124.4

p.G446D

c.1337G>A

4 papers

NM_000124.4

p.G445_G446del1

c.1335_1337delCCT

3 papers

NM_000124.4

p.G446del1

c.1336_1337delACC

1 paper

NM_000124.4

p.G445_G446del2

c.1333_1337del6

1 paper

NM_000124.4

p.R447Q

c.1340G>A

1 paper

NM_000124.4

p.E441G

c.1322A>G

2 papers

NM_000124.4

p.G431_G440delFs

c.1293_1320del28

1 paper

NM_000124.4

p.R451K

c.1352G>A

11 papers

NM_000124.4

p.R453*

c.1357C>T

1 paper

NM_000124.4

p.R453G

c.1357C>G