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.K1489R

c.4466A>G

Surrounding Variants

1 paper

NM_000124.4

p.L1488R

c.4463T>G

3 papers

NM_000124.4

p.K1487R

c.4460A>G

1 paper

NM_000124.4

p.W1486C

c.4458G>T

1 paper

NM_000124.4

p.W1486C

c.4458G>C

1 paper

NM_000124.4

p.G1484G

c.4452A>T

1 paper

NM_000124.4

p.G1484R

c.4450G>C

1 paper

NM_000124.4

p.G1484R

c.4450G>A

1 paper

NM_000124.4

p.G1481V

c.4442G>T

1 paper

NM_000124.4

p.L1473M

c.4417C>A

1 paper

NM_000124.4

p.E1468A

c.4403A>C

1 paper

NM_000124.4

p.R1467Q

c.4400G>A

5 papers

NM_000124.4

p.R1467*

c.4399C>T