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

3 papers

NM_020207.7

p.S658N

c.1973G>A

Surrounding Variants

1 paper

NM_020207.7

p.E718fs

c.2152_2153fs

2 papers

NM_020207.7

p.G719delFs

c.2156delG

1 paper

NM_020207.7

p.G719fs

c.2155_2156fs

1 paper

NM_020207.7

p.M727I

c.2181G>A

1 paper

NM_020207.7

p.Q730delFs

c.2189delA

1 paper

NM_020207.7

p.T825_S828delins

c.2474_2484delinsAA

1 paper

NM_020207.7

p.T825_S828Fs

c.2474_2484delinsAAAFs

2 papers

NM_020207.7

p.E912delFs

c.2734delG

1 paper

NM_020207.7

p.E912fs

c.2734_2735fs

1 paper

NM_020207.7

p.P923delFs

c.2767delC

2 papers

NM_020207.7

p.V937insFs

c.2809dupG

3 papers

NM_020207.7

p.N964I

c.2891A>T