Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.G127S

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.G127S
c.379G>A
Surrounding Variants
2 papers
NM_025136.4
p.E125K
c.373G>A
13 papers
NM_025136.4
p.L122P
c.365T>C
1 paper
NM_025136.4
p.L122L
c.364C>T
1 paper
NM_025136.4
p.A117V
c.350C>T
1 paper
NM_025136.4
p.A138T
c.412G>A
1 paper
NM_025136.4
p.A138G
c.413C>G
8 papers
NM_025136.4
p.Q139*
c.415C>T
5 papers
NM_025136.4
p.Q115*
c.343C>T
7 papers
NM_025136.4
p.Q107_E113del0
c.320_337del18
1 paper
NM_025136.4
p.K111E
c.331A>G
1 paper
NM_025136.4
p.P144R
c.431C>G
1 paper
NM_025136.4
p.G147fs
c.439_440fs
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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."