Varaico: Literature-Extracted Genetic Variants

Gene:OPA3

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
1–12 of 84 variants
21 papers
NM_025136.4
p.G93S
c.277G>A
20 papers
NM_025136.4
p.Q105E
c.313C>G
16 papers
NM_025136.4
p.L48Splc
c.143-1G>C
13 papers
NM_025136.4
p.L122P
c.365T>C
9 papers
NM_025136.4
p.I41M
c.123C>G
8 papers
NM_025136.4
p.Q139*
c.415C>T
7 papers
NM_025136.4
p.Q107_E113del0
c.320_337del18
6 papers
NM_025136.4
p.A77A
c.231T>C
6 papers
NM_001017989.3
p.Q105E
c.313C>G
5 papers
NM_025136.4
p.Q115*
c.343C>T
5 papers
NM_001017989.3
p.L122P
c.365T>C
5 papers
NM_001017989.3
p.Q139*
c.415C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."