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

5 papers

NM_000124.4

p.Q723_V724Splc

c.2170-1G>A

Surrounding Variants

1 paper

NM_000124.4

p.Q723_V724Splc

c.2170-2A>G

1 paper

NM_000124.4

p.Y728delFs

c.2184delG

1 paper

NM_000124.4

p.A731S

c.2191G>T

2 papers

NM_000124.4

p.A731T

c.2191G>A

21 papers

NM_000124.4

p.R735*

c.2203C>T

4 papers

NM_000124.4

p.R735L

c.2204G>T

2 papers

NM_000124.4

p.R735Q

c.2204G>A

1 paper

NM_000124.4

p.D736A

c.2207A>C

1 paper

NM_000124.4

p.I738L

c.2212A>T

1 paper

NM_000124.4

p.I738L

c.2212A>C

1 paper

NM_000124.4

p.P740S

c.2218C>T

1 paper

NM_000124.4

p.R744W

c.2230C>T