Varaico: Literature-Extracted Genetic Variants

Gene:TOMM40
Variant:p.S183S

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
4 papers
NM_001128917.2
p.S183S
c.549G>A
Surrounding Variants
1 paper
NM_001128917.2
p.F185C
c.554T>G
1 paper
NM_001128917.2
p.D191D
c.573C>T
1 paper
NM_001128917.2
p.G206V
c.617G>T
4 papers
NM_001128917.2
p.D209D
c.627C>T
2 papers
NM_001128917.2
p.V210V
c.630C>T
1 paper
NM_001128917.2
p.P170S
c.508C>T
1 paper
NM_001128917.2
p.I165V
c.493A>G
1 paper
NM_001128917.2
p.Q163*
c.487C>T
1 paper
NM_001128917.2
p.E145_A146Splc
c.436-1G>C
1 paper
NM_001128917.2
p.E145_A146Splc
c.435+33C>T
1 paper
NM_001128917.2
p.E145V
c.434A>T
1 paper
NM_001128917.2
p.P143L
c.428C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."