Varaico: Literature-Extracted Genetic Variants

ERCC6L2

91 papers

RefSeq Summary

This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with ...

Pfam Domains

SNF2-rel_domaa 126–461UCSCSNF2-related domain

Helicase_Caa 508–621UCSCHelicase conserved C-terminal domain

VIGSSKaa 1098–1142UCSCHelicase-associated putative binding domain, C-terminal

RHH_ERCC6L2aa 1219–1297UCSCERCC6L2-like, ribbon-helix-helix domain

Gene Aliases

HGNC Name

ERCC excision repair 6 like 2

HGNC Previous Symbol

C9orf102

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020207.7

p.V628M

c.1882G>A

Surrounding Variants

1 paper

NM_020207.7

p.C623F

c.1868G>T

6 papers

NM_020207.7

p.R644*

c.1930C>T