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

51 papers

NM_000124.4

p.M1097V

c.3289A>G

Surrounding Variants

1 paper

NM_000124.4

p.S1098I

c.3293G>T

2 papers

NM_000124.4

p.P1095L

c.3284C>T

11 papers

NM_000124.4

p.P1095R

c.3284C>G

1 paper

NM_000124.4

p.P1095H

c.3284C>A

1 paper

NM_000124.4

p.D1093A

c.3278A>C

1 paper

NM_000124.4

p.V1101I

c.3301G>A

1 paper

NM_000124.4

p.L1091L

c.3271T>C

1 paper

NM_000124.4

p.S1088G

c.3262A>G

9 papers

NM_000124.4

p.R1087*

c.3259C>T

1 paper

NM_000124.4

p.G1108R

c.3322G>C

1 paper

NM_000124.4

p.G1108R

c.3322G>A

1 paper

NM_000124.4

p.A1082V

c.3245C>T