Varaico: Literature-Extracted Genetic Variants

Gene:MTCH2

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
1–12 of 76 variants
11 papers
NM_014342.4
p.R77*
c.229A>T
9 papers
NM_014342.4
p.F237S
c.710T>C
7 papers
NM_014342.4
p.C270G
c.808T>G
6 papers
NM_014342.4
p.Y23H
c.67T>C
6 papers
NM_014342.4
p.W269*
c.806G>A
6 papers
NM_014342.4
p.W269*
c.807G>A
6 papers
NM_014342.4
p.P290A
c.868C>G
5 papers
NM_014342.4
p.P20R
c.59C>G
5 papers
NM_014342.4
p.C79R
c.235T>C
5 papers
NM_014342.4
p.F228S
c.683T>C
5 papers
NM_014342.4
p.K274R
c.821A>G
5 papers
NM_014342.4
p.K300R
c.899A>G
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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."