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.P143_V144Splc

c.429+1G>A

Surrounding Variants

6 papers

NM_005918.4

p.P143_V144Splc

c.429+1G>T

1 paper

NM_005918.4

p.P143P

c.429G>A

1 paper

NM_005918.4

p.P143L

c.428C>T

1 paper

NM_005918.4

p.P143A

c.427C>G

1 paper

NM_005918.4

p.A141T

c.421G>A

1 paper

NM_005918.4

p.A141P

c.421G>C

1 paper

NM_005918.4

p.I140T

c.419T>C

1 paper

NM_005918.4

p.V139A

c.416T>C

4 papers

NM_005918.4

p.V139I

c.415G>A

1 paper

NM_005918.4

p.C138Y

c.413G>A

1 paper

NM_005918.4

p.C138S

c.413G>C

1 paper

NM_005918.4

p.C138S

c.412T>A