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.Y834fs

c.2500_2501fs

Surrounding Variants

1 paper

NM_000124.4

p.Y834fs

c.2500_2501fs

3 papers

NM_000124.4

p.W835*

c.2504G>A

3 papers

NM_000124.4

p.W835*

c.2505G>A

1 paper

NM_000124.4

p.K836K

c.2508A>G

1 paper

NM_000124.4

p.R837C

c.2509C>T

1 paper

NM_000124.4

p.R837L

c.2510G>T

3 papers

NM_000124.4

p.R837H

c.2510G>A

1 paper

NM_000124.4

p.E828Q

c.2482G>C

1 paper

NM_000124.4

p.L827L

c.2479C>T

1 paper

NM_000124.4

p.E826fs

c.2476_2477fs

1 paper

NM_000124.4

p.M841I

c.2523G>T

1 paper

NM_000124.4

p.M841I

c.2523G>C