Varaico: Literature-Extracted Genetic Variants

Gene:MTX1
Variant:p.L176_T177Splc

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.L176_T177Splc
c.528+1G>T
Surrounding Variants
1 paper
NM_002455.5
p.D169Y
c.505G>T
1 paper
NM_002455.5
p.F157fs
c.469_470fs
1 paper
NM_002455.5
p.M150L
c.448A>C
1 paper
NM_002455.5
p.M150L
c.448A>T
1 paper
NM_002455.5
p.K139R
c.416A>G
1 paper
NM_002455.5
p.E136G
c.407A>G
1 paper
NM_002455.5
p.G133E
c.398G>A
1 paper
NM_002455.5
p.R131M
c.392G>T
1 paper
NM_002455.5
p.T120M
c.359C>T
1 paper
NM_002455.5
p.L117P
c.350T>C
1 paper
NM_002455.5
p.G111delFs
c.333delG
1 paper
NM_002455.5
p.A99V
c.296C>T
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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."