Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.Q105E

OPA3

123 papers

RefSeq Summary

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant op...

Pfam Domains

OPA3aa 9–129UCSCOptic atrophy 3 protein (OPA3)

Gene Aliases

HGNC Name

outer mitochondrial membrane lipid metabolism regulator OPA3

HGNC Alias Symbols

FLJ22187; MGA3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
20 papers
NM_025136.4
p.Q105E
c.313C>G
Surrounding Variants
1 paper
NM_025136.4
p.R103P
c.308G>C
2 papers
NM_025136.4
p.R103H
c.308G>A
1 paper
NM_025136.4
p.Y101H
c.301T>C
1 paper
NM_025136.4
p.K111E
c.331A>G
1 paper
NM_025136.4
p.V98M
c.292G>A
7 papers
NM_025136.4
p.Q107_E113del0
c.320_337del18
5 papers
NM_025136.4
p.Q115*
c.343C>T
21 papers
NM_025136.4
p.G93S
c.277G>A
1 paper
NM_025136.4
p.A117V
c.350C>T
1 paper
NM_025136.4
p.L122L
c.364C>T
13 papers
NM_025136.4
p.L122P
c.365T>C
2 papers
NM_025136.4
p.E125K
c.373G>A
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