Varaico: Literature-Extracted Genetic Variants

Gene:MTCH2
Variant:p.K300R

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.K300R
c.899A>G
Surrounding Variants
1 paper
NM_014342.4
p.D298N
c.892G>A
6 papers
NM_014342.4
p.P290A
c.868C>G
1 paper
NM_014342.4
p.V289del1
c.865_867delGAC
1 paper
NM_014342.4
p.V289fs
c.865_866fs
1 paper
NM_014342.4
p.K288_V289insFs
c.864_865ins4
1 paper
NM_014342.4
p.K288fs
c.862_863fs
1 paper
NM_014342.4
p.K288insFs
c.863_864insGA
1 paper
NM_014342.4
p.R287Q
c.860G>A
2 papers
NM_014342.4
p.R280L
c.839G>T
1 paper
NM_014342.4
p.M278_S279insFs
c.834_835ins4
5 papers
NM_014342.4
p.K274R
c.821A>G
1 paper
NM_014342.4
p.C270Y
c.809G>A
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