Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.A76V

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
1 paper
NM_025136.4
p.A76V
c.227C>T
Surrounding Variants
1 paper
NM_025136.4
p.A76T
c.226G>A
1 paper
NM_025136.4
p.A77T
c.229G>A
6 papers
NM_025136.4
p.A77A
c.231T>C
3 papers
NM_025136.4
p.L79V
c.235C>G
1 paper
NM_025136.4
p.P70L
c.209C>T
1 paper
NM_025136.4
p.V67L
c.199G>C
1 paper
NM_025136.4
p.G65fs
c.193_194fs
2 papers
NM_025136.4
p.G65delFs
c.194delC
1 paper
NM_025136.4
p.G65fs
c.193_194fs
1 paper
NM_025136.4
p.G62C
c.184G>T
1 paper
NM_025136.4
p.G62S
c.184G>A
1 paper
NM_025136.4
p.M61T
c.182T>C
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