Varaico: Literature-Extracted Genetic Variants

Gene:ME2
Variant:p.R91T

ME2

46 papers

RefSeq Summary

This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a sy...

Pfam Domains

malicaa 89–270UCSCMalic enzyme, N-terminal domain
Malic_Maa 280–535UCSCMalic enzyme, NAD binding domain

Gene Aliases

HGNC Name

malic enzyme 2

HGNC Previous Name

malic enzyme 2, NAD(+)-dependent, mitochondrial

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002396.5
p.R91T
c.272G>C
Surrounding Variants
1 paper
NM_002396.5
p.E90D
c.270A>C
1 paper
NM_002396.5
p.E90D
c.270A>T
1 paper
NM_002396.5
p.Q89P
c.266A>C
1 paper
NM_002396.5
p.I88L
c.262A>C
1 paper
NM_002396.5
p.I88L
c.262A>T
1 paper
NM_002396.5
p.G87R
c.259G>A
1 paper
NM_002396.5
p.G87R
c.259G>C
1 paper
NM_002396.5
p.I85L
c.253A>C
1 paper
NM_002396.5
p.I85V
c.253A>G
1 paper
NM_002396.5
p.I85L
c.253A>T
1 paper
NM_002396.5
p.I99V
c.295A>G
1 paper
NM_002396.5
p.I83L
c.247A>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."