Varaico: Literature-Extracted Genetic Variants

Gene:MTX2
Variant:p.S100G

MTX2

36 papers

RefSeq Summary

The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, ...

Pfam Domains

Tom37aa 41–162UCSCOuter mitochondrial membrane transport complex protein
GST_C_6aa 186–249UCSCGlutathione S-transferase, C-terminal domain

Gene Aliases

HGNC Name

metaxin 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006554.5
p.S100G
c.298A>G
Surrounding Variants
2 papers
NM_006554.5
p.L99delFs
c.295delC
4 papers
NM_006554.5
p.S98_L99delFs
c.294_295delTC
2 papers
NM_006554.5
p.V118I
c.352G>A
3 papers
NM_006554.5
p.E126_L127Splc
c.378+1G>A
1 paper
NM_006554.5
p.Y128H
c.382T>C
1 paper
NM_006554.5
p.W151R
c.451T>C
1 paper
NM_006554.5
p.R167insFs
c.500_501insT
1 paper
NM_006554.5
p.R167insFs
c.500_501insTC
1 paper
NM_006554.5
p.D180Y
c.538G>T
3 papers
NM_006554.5
p.Q181_V182Splc
c.543+1G>T
1 paper
NM_006554.5
p.I88V
c.262A>G
2 papers
NM_006554.5
p.P73A
c.217C>G
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