Varaico: Literature-Extracted Genetic Variants

Gene:MTX1

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
1–12 of 55 variants
16 papers
NM_002455.5
p.S63T
c.187T>A
3 papers
NM_002455.5
p.I421delFs
c.1263delC
2 papers
NM_002455.5
p.G68delFs
c.203delG
2 papers
NM_002455.5
p.F351L
c.1051T>C
2 papers
NM_002455.5
p.F351L
c.1053C>A
2 papers
NM_002455.5
p.F351L
c.1053C>G
1 paper
NM_002455.5
p.M1L
c.1A>C
1 paper
NM_002455.5
p.M1L
c.1A>T
1 paper
NM_002455.5
p.P6insFs
c.16dupC
1 paper
NM_002455.5
p.R8fs
c.22_23fs
1 paper
NM_002455.5
p.S12L
c.35C>T
1 paper
NM_002455.5
p.F28_G29insFs
c.84_85insG
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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."