Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.Q105E

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
6 papers
NM_001017989.3
p.Q105E
c.313C>G
Surrounding Variants
4 papers
NM_001017989.3
p.Q107_K113del0
c.320_337del18
1 paper
NM_001017989.3
p.R115*
c.343C>T
3 papers
NM_001017989.3
p.A93T
c.277G>A
1 paper
NM_001017989.3
p.I88I
c.264C>T
5 papers
NM_001017989.3
p.L122P
c.365T>C
1 paper
NM_001017989.3
p.G127S
c.379G>A
1 paper
NM_001017989.3
p.G130E
c.389G>A
1 paper
NM_001017989.3
p.L79V
c.235C>G
1 paper
NM_001017989.3
p.A76V
c.227C>T
5 papers
NM_001017989.3
p.Q139*
c.415C>T
3 papers
NM_001017989.3
p.L48Splc
c.143-1G>C
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