Varaico: Literature-Extracted Genetic Variants

Gene:MDH2

MDH2

117 papers

RefSeq Summary

Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the...

Pfam Domains

Ldh_1_Naa 1–61UCSClactate/malate dehydrogenase, NAD binding domain
Ldh_1_Naa 25–168UCSClactate/malate dehydrogenase, NAD binding domain
Ldh_1_Caa 63–227UCSClactate/malate dehydrogenase, alpha/beta C-terminal domain

Gene Aliases

HGNC Name

malate dehydrogenase 2

HGNC Previous Name

malate dehydrogenase 2, NAD (mitochondrial)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 402 variants
13 papers
NM_005918.4
p.P133L
c.398C>T
7 papers
NM_005918.4
p.A9V
c.26C>T
7 papers
NM_005918.4
p.G37R
c.109G>A
7 papers
NM_005918.4
p.G37R
c.109G>C
7 papers
NM_005918.4
p.V160M
c.478G>A
7 papers
NM_005918.4
p.P207L
c.620C>T
6 papers
NM_005918.4
p.P143_V144Splc
c.429+1G>T
6 papers
NM_005918.4
p.P149fs
c.445_446fs
5 papers
NM_005918.4
p.R104G
c.310A>G
5 papers
NM_005918.4
p.P149Fs
c.445delinsACAFs
5 papers
NM_005918.4
p.G199delFs
c.596delG
5 papers
NM_005918.4
p.G199fs
c.595_596fs
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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."