Varaico: Literature-Extracted Genetic Variants

Gene:TOMM40
Variant:p.L77R

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.L77R
c.230T>G
Surrounding Variants
1 paper
NM_001128917.2
p.L77V
c.229C>G
1 paper
NM_001128917.2
p.P78R
c.233C>G
1 paper
NM_001128917.2
p.P80fs
c.238_239fs
1 paper
NM_001128917.2
p.P80delFs
c.240delG
1 paper
NM_001128917.2
p.G81C
c.241G>T
1 paper
NM_001128917.2
p.G81D
c.242G>A
1 paper
NM_001128917.2
p.E84*
c.250G>T
1 paper
NM_001128917.2
p.E85V
c.254A>T
1 paper
NM_001128917.2
p.G67fs
c.199_200fs
1 paper
NM_001128917.2
p.S66S
c.198A>G
1 paper
NM_001128917.2
p.G67delFs
c.199delG
1 paper
NM_001128917.2
p.S64R
c.192C>A
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