Varaico: Literature-Extracted Genetic Variants

Gene:TOMM40

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
1–12 of 86 variants
6 papers
NM_001128917.2
p.F113F
c.339T>C
6 papers
NM_001128917.2
p.F131F
c.393C>T
4 papers
NM_001128917.2
p.F131L
c.391T>C
4 papers
NM_001128917.2
p.F131L
c.393C>A
4 papers
NM_001128917.2
p.F131L
c.393C>G
4 papers
NM_001128917.2
p.S183S
c.549G>A
4 papers
NM_001128917.2
p.D209D
c.627C>T
3 papers
NM_001128917.2
p.E92Splc
c.275-31A>G
3 papers
NM_001128917.2
p.F113L
c.337T>C
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.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."