Varaico: Literature-Extracted Genetic Variants

Gene:ME2
Variant:p.R194W

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
1 paper
NM_002396.5
p.R194W
c.580C>T
Surrounding Variants
1 paper
NM_002396.5
p.R197K
c.590G>A
1 paper
NM_002396.5
p.E237*
c.709G>T
1 paper
NM_002396.5
p.K240T
c.719A>C
1 paper
NM_002396.5
p.K156M
c.467A>T
1 paper
NM_002396.5
p.G141V
c.422G>T
1 paper
NM_002396.5
p.R140G
c.418A>G
1 paper
NM_002396.5
p.G247D
c.740G>A
1 paper
NM_002396.5
p.R270*
c.808C>T
1 paper
NM_002396.5
p.D279A
c.836A>C
1 paper
NM_002396.5
p.S303F
c.908C>T
1 paper
NM_002396.5
p.E314A
c.941A>C
1 paper
NM_002396.5
p.N321H
c.961A>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."