Varaico: Literature-Extracted Genetic Variants

Gene:TOMM40
Variant:p.F113F

TOMM40

119 papers

RefSeq Summary

The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is ...

Pfam Domains

Porin_3aa 79–355UCSCEukaryotic porin

Gene Aliases

HGNC Name

translocase of outer mitochondrial membrane 40

HGNC Alias Symbols

PEREC1; D19S1177E; TOM40; PER-EC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001128917.2
p.F113F
c.339T>C
Surrounding Variants
3 papers
NM_001128917.2
p.F113L
c.339T>A
3 papers
NM_001128917.2
p.F113L
c.339T>G
3 papers
NM_001128917.2
p.F113L
c.337T>C
1 paper
NM_001128917.2
p.H112Y
c.334C>T
1 paper
NM_001128917.2
p.V105I
c.313G>A
1 paper
NM_001128917.2
p.L103L
c.309C>T
1 paper
NM_001128917.2
p.L93L
c.277C>T
1 paper
NM_001128917.2
p.E92D
c.276G>C
3 papers
NM_001128917.2
p.E92Splc
c.275-31A>G
1 paper
NM_001128917.2
p.H117R
c.350A>G
1 paper
NM_001128917.2
p.I124F
c.370A>T
1 paper
NM_001128917.2
p.S127S
c.381C>A
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