Varaico: Literature-Extracted Genetic Variants

Gene:MTCH2
Variant:p.H119Q

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
1 paper
NM_014342.4
p.H119Q
c.357C>A
Surrounding Variants
1 paper
NM_014342.4
p.H119Q
c.357C>G
1 paper
NM_014342.4
p.E112A
c.335A>C
1 paper
NM_014342.4
p.Q110Q
c.330G>A
1 paper
NM_014342.4
p.V109I
c.325G>A
1 paper
NM_014342.4
p.A133T
c.397G>A
1 paper
NM_014342.4
p.H139_P140insFs
c.417_418ins4
2 papers
NM_014342.4
p.H142D
c.424C>G
1 paper
NM_014342.4
p.E156V
c.467A>T
1 paper
NM_014342.4
p.Y159S
c.476A>C
3 papers
NM_014342.4
p.V87V
c.261C>G
1 paper
NM_014342.4
p.G81G
c.243A>G
4 papers
NM_014342.4
p.C79Y
c.236G>A
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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."