Varaico: Literature-Extracted Genetic Variants

Gene:TOMM40
Variant:p.A219A

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
1 paper
NM_001128917.2
p.A219A
c.657C>T
Surrounding Variants
1 paper
NM_001128917.2
p.V218I
c.652G>A
1 paper
NM_001128917.2
p.V218delFs
c.652delG
1 paper
NM_001128917.2
p.I225F
c.673A>T
1 paper
NM_001128917.2
p.T226M
c.677C>T
1 paper
NM_001128917.2
p.H238insFs
c.713dupA
1 paper
NM_001128917.2
p.H238L
c.713A>T
3 papers
NM_001128917.2
p.R239W
c.715C>T
1 paper
NM_001128917.2
p.R240W
c.718C>T
1 paper
NM_001128917.2
p.Y254H
c.760T>C
1 paper
NM_001128917.2
p.W259*
c.776G>A
1 paper
NM_001128917.2
p.T264M
c.791C>T
1 paper
NM_001128917.2
p.L265F
c.795G>C
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