Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.L11Q

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
4 papers
NM_025136.4
p.L11Q
c.32T>A
Surrounding Variants
1 paper
NM_025136.4
p.K10N
c.30G>T
1 paper
NM_025136.4
p.K10N
c.30G>C
1 paper
NM_025136.4
p.K10K
c.30G>A
4 papers
NM_025136.4
p.K10_L11ins6
c.28_32ins18
1 paper
NM_025136.4
p.A9V
c.26C>T
4 papers
NM_025136.4
p.Y13C
c.38A>G
1 paper
NM_025136.4
p.M8T
c.23T>C
1 paper
NM_025136.4
p.G15R
c.43G>C
4 papers
NM_025136.4
p.G4ins2
c.10_11ins6
2 papers
NM_025136.4
p.V3_G4ins2
c.7_11ins6
1 paper
NM_025136.4
p.V2V
c.6G>A
1 paper
NM_025136.4
p.M1I
c.3G>T
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