Varaico: Literature-Extracted Genetic Variants

Gene:MTCH2
Variant:p.S56C

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.S56C
c.166A>T
Surrounding Variants
1 paper
NM_014342.4
p.P52S
c.154C>T
1 paper
NM_014342.4
p.R46R
c.138G>A
1 paper
NM_014342.4
p.R46Q
c.137G>A
1 paper
NM_014342.4
p.F44L
c.132T>G
1 paper
NM_014342.4
p.F44L
c.132T>A
1 paper
NM_014342.4
p.F44L
c.130T>C
1 paper
NM_014342.4
p.R41Q
c.122G>A
1 paper
NM_014342.4
p.I39del1
c.115_116delTAT
1 paper
NM_014342.4
p.P34L
c.101C>T
1 paper
NM_014342.4
p.V30_G31insT
c.88_92ins3
1 paper
NM_014342.4
p.A58A
c.174T>A
1 paper
NM_014342.4
p.H60R
c.179A>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."