Varaico: Literature-Extracted Genetic Variants

Gene:MTCH2
Variant:p.K274R

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
5 papers
NM_014342.4
p.K274R
c.821A>G
Surrounding Variants
1 paper
NM_014342.4
p.C270Y
c.809G>A
7 papers
NM_014342.4
p.C270G
c.808T>G
7 papers
NM_014342.4
p.W269*
c.807G>A
NM_001317232.2
p.W260*
c.780G>A
6 papers
NM_014342.4
p.W269*
c.806G>A
1 paper
NM_014342.4
p.S259F
c.776C>T
5 papers
NM_014342.4
p.V246A
c.737T>C
NM_001317232.2
p.V237A
c.710T>C
10 papers
NM_014342.4
p.F237S
c.710T>C
NM_001317232.2
p.F228S
c.683T>C
5 papers
NM_014342.4
p.F228S
c.683T>C
1 paper
NM_014342.4
p.G227_F228Splc
c.681+590C>T
1 paper
NM_014342.4
p.M278_S279insFs
c.834_835ins4
2 papers
NM_014342.4
p.R280L
c.839G>T
1 paper
NM_014342.4
p.R287Q
c.860G>A
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."