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.D272N

c.814G>A

Surrounding Variants

1 paper

NM_020207.7

p.C293C

c.879T>C

1 paper

NM_020207.7

p.G298_L299del2

c.892_896del6

1 paper

NM_020207.7

p.Q305E

c.913C>G

1 paper

NM_020207.7

p.M315K

c.944T>A

1 paper

NM_020207.7

p.F329L

c.985T>C

1 paper

NM_020207.7

p.F329L

c.987C>A

1 paper

NM_020207.7

p.F329L

c.987C>G

1 paper

NM_020207.7

p.R370G

c.1108A>G

1 paper

NM_020207.7

p.L375insFs

c.1125dupT

1 paper

NM_020207.7

p.P381_K382delFs

c.1143_1146del4

1 paper

NM_020207.7

p.T393I

c.1178C>T

2 papers

NM_020207.7

p.Q401_T402delFs

c.1203_1206del4