Varaico: Literature-Extracted Genetic Variants

Gene:MTX1
Variant:p.A99V

MTX1

73 papers

Pfam Domains

Tom37aa 172–293UCSCOuter mitochondrial membrane transport complex protein
GST_C_6aa 323–386UCSCGlutathione S-transferase, C-terminal domain
GST_C_6aa 323–386UCSCGlutathione S-transferase, C-terminal domain

Gene Aliases

HGNC Name

metaxin 1

HGNC Alias Symbol

MTXN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002455.5
p.A99V
c.296C>T
Surrounding Variants
1 paper
NM_002455.5
p.G111delFs
c.333delG
1 paper
NM_002455.5
p.L117P
c.350T>C
1 paper
NM_002455.5
p.T120M
c.359C>T
2 papers
NM_002455.5
p.G68delFs
c.203delG
1 paper
NM_002455.5
p.R131M
c.392G>T
1 paper
NM_002455.5
p.G133E
c.398G>A
16 papers
NM_002455.5
p.S63T
c.187T>A
1 paper
NM_002455.5
p.E136G
c.407A>G
1 paper
NM_002455.5
p.R60H
c.179G>A
1 paper
NM_002455.5
p.K139R
c.416A>G
1 paper
NM_002455.5
p.R53W
c.157C>T
1 paper
NM_002455.5
p.M150L
c.448A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."