Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.L48Splc

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.L48Splc
c.142+4A>G
Surrounding Variants
3 papers
NM_025136.4
p.L48Splc
c.142+5G>C
1 paper
NM_025136.4
p.L48Splc
c.142+1G>C
1 paper
NM_025136.4
p.A46T
c.136G>A
2 papers
NM_025136.4
p.P44P
c.132G>A
1 paper
NM_025136.4
p.C42S
c.125G>C
1 paper
NM_025136.4
p.C42S
c.124T>A
9 papers
NM_025136.4
p.I41M
c.123C>G
1 paper
NM_025136.4
p.T39S
c.116C>G
1 paper
NM_025136.4
p.K28K
c.84G>A
1 paper
NM_025136.4
p.G15R
c.43G>C
4 papers
NM_025136.4
p.Y13C
c.38A>G
4 papers
NM_025136.4
p.L11Q
c.32T>A
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