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

1–12 of 119 variants

8 papers

NM_020207.7

p.I475delFs

c.1424delT

8 papers

NM_020207.7

p.F486delFs

c.1457delT

7 papers

NM_020207.7

p.Q7*

c.19C>T

6 papers

NM_020207.7

p.R644*

c.1930C>T

5 papers

NM_020207.7

p.Q1266*

c.3796C>T

3 papers

NM_020207.7

p.D272N

c.814G>A

3 papers

NM_020207.7

p.Q491*

c.1471C>T

3 papers

NM_020207.7

p.R552*

c.1654C>T

3 papers

NM_020207.7

p.V581A

c.1742T>C

3 papers

NM_020207.7

p.S658N

c.1973G>A

3 papers

NM_020207.7

p.N964I

c.2891A>T

3 papers

NM_020207.7

p.R973_G975delFs

c.2919_2923del5