Varaico: Literature-Extracted Genetic Variants

Gene:ME2
Variant:p.N321H

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.N321H
c.961A>C
Surrounding Variants
1 paper
NM_002396.5
p.K346R
c.1037A>G
1 paper
NM_002396.5
p.E314A
c.941A>C
1 paper
NM_002396.5
p.S303F
c.908C>T
1 paper
NM_002396.5
p.D279A
c.836A>C
1 paper
NM_002396.5
p.R270*
c.808C>T
1 paper
NM_002396.5
p.G247D
c.740G>A
1 paper
NM_002396.5
p.K240T
c.719A>C
1 paper
NM_002396.5
p.E237*
c.709G>T
1 paper
NM_002396.5
p.K352_G353Splc
c.1057-36G>A
1 paper
NM_002396.5
p.I358V
c.1072A>G
1 paper
NM_002396.5
p.Y361D
c.1081T>G
4 papers
NM_002396.5
p.Q362K
c.1084C>A
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