Varaico: Literature-Extracted Genetic Variants

Gene:MTCH2
Variant:p.R77*

MTCH2

82 papers

RefSeq Summary

This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathwa...

Pfam Domains

Mito_carraa 118–207UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

mitochondrial carrier 2

HGNC Alias Symbols

SLC25A50; MIMP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_014342.4
p.R77*
c.229A>T
Surrounding Variants
5 papers
NM_014342.4
p.C79R
c.235T>C
4 papers
NM_014342.4
p.C79Y
c.236G>A
1 paper
NM_014342.4
p.G73R
c.217G>C
1 paper
NM_014342.4
p.G81G
c.243A>G
1 paper
NM_014342.4
p.R68C
c.202C>T
3 papers
NM_014342.4
p.V87V
c.261C>G
2 papers
NM_014342.4
p.G66R
c.196G>C
2 papers
NM_014342.4
p.G66R
c.196G>A
1 paper
NM_014342.4
p.H60R
c.179A>G
1 paper
NM_014342.4
p.A58A
c.174T>A
1 paper
NM_014342.4
p.S56C
c.166A>T
1 paper
NM_014342.4
p.P52S
c.154C>T
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