Varaico: Literature-Extracted Genetic Variants

Gene:ME2
Variant:p.I58V

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.I58V
c.172A>G
Surrounding Variants
1 paper
NM_002396.5
p.K57R
c.170A>G
1 paper
NM_002396.5
p.E59Q
c.175G>C
1 paper
NM_002396.5
p.E59D
c.177G>C
1 paper
NM_002396.5
p.E59D
c.177G>T
1 paper
NM_002396.5
p.T60S
c.178A>T
1 paper
NM_002396.5
p.P56S
c.166C>T
1 paper
NM_002396.5
p.P55S
c.163C>T
1 paper
NM_002396.5
p.A65V
c.194C>T
1 paper
NM_002396.5
p.L50F
c.148C>T
1 paper
NM_002396.5
p.L66I
c.196T>A
1 paper
NM_002396.5
p.R67Q
c.200G>A
1 paper
NM_002396.5
p.F68V
c.202T>G
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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."