Varaico: Literature-Extracted Genetic Variants

Gene:MTX1
Variant:p.Y351H

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_198883.3
p.Y351H
c.1051T>C
Surrounding Variants
2 papers
NM_002455.5
p.F351L
c.1053C>A
2 papers
NM_002455.5
p.F351L
c.1053C>G
2 papers
NM_002455.5
p.F351L
c.1051T>C
1 paper
NM_002455.5
p.S347F
c.1040C>T
1 paper
NM_002455.5
p.P408L
c.1223C>T
1 paper
NM_002455.5
p.E409G
c.1226A>G
3 papers
NM_002455.5
p.I421delFs
c.1263delC
1 paper
NM_002455.5
p.L457L
c.1369C>T
1 paper
NM_002455.5
p.E312E
c.936G>A
1 paper
NM_002455.5
p.E306K
c.916G>A
1 paper
NM_002455.5
p.R299Q
c.896G>A
1 paper
NM_002455.5
p.E298Q
c.892G>C
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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."