Varaico: Literature-Extracted Genetic Variants

Gene:MTCH2
Variant:p.P20R

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.P20R
c.59C>G
Surrounding Variants
4 papers
NM_014342.4
p.Q19*
c.55C>T
6 papers
NM_014342.4
p.Y23H
c.67T>C
4 papers
NM_014342.4
p.V24M
c.70G>A
2 papers
NM_014342.4
p.K25E
c.73A>G
3 papers
NM_014342.4
p.G11D
c.32G>A
1 paper
NM_014342.4
p.L10_G11insFs
c.30_31insT
1 paper
NM_014342.4
p.L10fs
c.28_29fs
1 paper
NM_014342.4
p.V8M
c.22G>A
1 paper
NM_014342.4
p.D3V
c.8A>T
1 paper
NM_014342.4
p.D3ins1
c.7_8insCCA
1 paper
NM_014342.4
p.A2insFs
c.5_6insC
1 paper
NM_014342.4
p.A2insFs
c.5_6ins22
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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."