Varaico: Literature-Extracted Genetic Variants

Gene:MTX1
Variant:p.R299Q

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.R299Q
c.896G>A
Surrounding Variants
1 paper
NM_002455.5
p.E298Q
c.892G>C
1 paper
NM_002455.5
p.E306K
c.916G>A
1 paper
NM_002455.5
p.E312E
c.936G>A
1 paper
NM_002455.5
p.P281ins1
c.842_843insTGA
1 paper
NM_002455.5
p.M280L
c.838A>C
1 paper
NM_002455.5
p.L257_V258Splc
c.772-12C>T
1 paper
NM_002455.5
p.E250K
c.748G>A
1 paper
NM_002455.5
p.E250Q
c.748G>C
1 paper
NM_002455.5
p.D241N
c.721G>A
1 paper
NM_002455.5
p.S235P
c.703T>C
1 paper
NM_002455.5
p.Y228C
c.683A>G
1 paper
NM_002455.5
p.K227R
c.680A>G
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