Varaico: Literature-Extracted Genetic Variants

Gene:ME2
Variant:p.F460fs

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.F460fs
c.1378_1379fs
Surrounding Variants
1 paper
NM_002396.5
p.F460delFs
c.1379_1380delTT
1 paper
NM_002396.5
p.G450E
c.1349G>A
1 paper
NM_002396.5
p.G446D
c.1337G>A
1 paper
NM_002396.5
p.E438_G439Splc
c.1315-1725T>C
1 paper
NM_002396.5
p.I410I
c.1230C>T
1 paper
NM_002396.5
p.R484W
c.1450C>T
1 paper
NM_002396.5
p.L516P
c.1547T>C
1 paper
NM_002396.5
p.P364A
c.1090C>G
4 papers
NM_002396.5
p.Q362K
c.1084C>A
1 paper
NM_002396.5
p.Y361D
c.1081T>G
1 paper
NM_002396.5
p.I358V
c.1072A>G
1 paper
NM_002396.5
p.K352_G353Splc
c.1057-36G>A
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