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

2 papers

NM_020207.7

p.Q401_T402delFs

c.1203_1206del4

Surrounding Variants

1 paper

NM_020207.7

p.T402fs

c.1204_1205fs

1 paper

NM_020207.7

p.T393I

c.1178C>T

2 papers

NM_020207.7

p.I412_L413delFs

c.1236_1239del4

1 paper

NM_020207.7

p.T434_S436delFs

c.1302_1306del5

1 paper

NM_020207.7

p.V459F

c.1375G>T

1 paper

NM_020207.7

p.A460V

c.1379C>T

1 paper

NM_020207.7

p.L462_A464delFs

c.1384_1390del7

1 paper

NM_020207.7

p.I475fs

c.1423_1424fs

8 papers

NM_020207.7

p.I475delFs

c.1424delT

1 paper

NM_020207.7

p.I475fs

c.1423_1424fs

1 paper

NM_020207.7

p.R477R

c.1429A>C

1 paper

NM_020207.7

p.R477K

c.1430G>A