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.R261fs

c.781_782fs

Surrounding Variants

2 papers

NM_000124.4

p.P260insFs

c.779_780dupCC

1 paper

NM_000124.4

p.K262R

c.785A>G

1 paper

NM_000124.4

p.I263V

c.787A>G

1 paper

NM_000124.4

p.R261delFs

c.783delT

1 paper

NM_000124.4

p.N266S

c.797A>G

2 papers

NM_000124.4

p.K255T

c.764A>C

1 paper

NM_000124.4

p.Q254_K255delFs

c.762_763delTC

2 papers

NM_000124.4

p.K255*

c.763A>T

1 paper

NM_000124.4

p.Q254fs

c.760_761fs

1 paper

NM_000124.4

p.G270G

c.810C>T

1 paper

NM_000124.4

p.Q251E

c.751C>G

2 papers

NM_000124.4

p.E272K

c.814G>A