Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_005918.4

p.M108I

c.324G>A

Surrounding Variants

1 paper

NM_005918.4

p.M108I

c.324G>C

1 paper

NM_005918.4

p.M108I

c.324G>T

1 paper

NM_005918.4

p.T109I

c.326C>T

1 paper

NM_005918.4

p.R110W

c.328C>T

1 paper

NM_005918.4

p.G107V

c.320G>T

2 papers

NM_005918.4

p.G107Splc

c.320-2A>T

1 paper

NM_005918.4

p.R110_D111ins9

c.330_331ins27

1 paper

NM_005918.4

p.D111N

c.331G>A

1 paper

NM_005918.4

p.D112Y

c.334G>T

2 papers

NM_005918.4

p.T116I

c.347C>T

1 paper

NM_005918.4

p.N117S

c.350A>G

1 paper

NM_005918.4

p.A118V

c.353C>T