Varaico: Literature-Extracted Genetic Variants

Gene:TOMM40
Variant:p.L265F

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.L265F
c.795G>T
Surrounding Variants
1 paper
NM_001128917.2
p.L265F
c.795G>C
1 paper
NM_001128917.2
p.T264M
c.791C>T
1 paper
NM_001128917.2
p.M270V
c.808A>G
1 paper
NM_001128917.2
p.M270I
c.810G>A
1 paper
NM_001128917.2
p.M270I
c.810G>C
1 paper
NM_001128917.2
p.M270I
c.810G>T
1 paper
NM_001128917.2
p.W259*
c.776G>A
1 paper
NM_001128917.2
p.Q283Q
c.849G>A
1 paper
NM_001128917.2
p.Y254H
c.760T>C
1 paper
NM_001128917.2
p.L312V
c.934C>G
1 paper
NM_001128917.2
p.R240W
c.718C>T
3 papers
NM_001128917.2
p.R239W
c.715C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."