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.R1225Splc

c.3675-2A>T

Surrounding Variants

1 paper

NM_020207.7

p.N1236_S1239del4

c.3706_3716del12

1 paper

NM_020207.7

p.N1241S

c.3722A>G

3 papers

NM_020207.7

p.R1255*

c.3763C>T

1 paper

NM_020207.7

p.M1258delFs

c.3773_3774delTG

5 papers

NM_020207.7

p.Q1266*

c.3796C>T

1 paper

NM_020207.7

p.Q1291P

c.3872A>C

1 paper

NM_020207.7

p.S1297C

c.3890C>G

1 paper

NM_020207.7

p.S1302_P1306del5

c.3904_3917del15

1 paper

NM_020207.7

p.I1343_S1344delFs

c.4028_4032del5

1 paper

NM_020207.7

p.S1363S

c.4089T>G

1 paper

NM_020207.7

p.Q1365delFs

c.4095delA

1 paper

NM_020207.7

p.S1384_E1390del7

c.4150_4169del21