Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.A170V

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.A170V
c.509C>T
Surrounding Variants
1 paper
NM_025136.4
p.A170insFs
c.510dupT
2 papers
NM_025136.4
p.S171delFs
c.511delA
1 paper
NM_025136.4
p.H172Y
c.514C>T
1 paper
NM_025136.4
p.G167R
c.499G>C
1 paper
NM_025136.4
p.L163F
c.487C>T
1 paper
NM_025136.4
p.K179K
c.537A>G
1 paper
NM_025136.4
p.E158G
c.473A>G
2 papers
NM_025136.4
p.L156R
c.467T>G
1 paper
NM_025136.4
p.R153C
c.457C>T
2 papers
NM_025136.4
p.G147delFs
c.439_440delCC
1 paper
NM_025136.4
p.G147fs
c.439_440fs
1 paper
NM_025136.4
p.P144R
c.431C>G
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