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.A177T

c.529G>A

Surrounding Variants

1 paper

NM_005918.4

p.A177V

c.530C>T

1 paper

NM_005918.4

p.N178K

c.534C>A

1 paper

NM_005918.4

p.N178K

c.534C>G

2 papers

NM_005918.4

p.V175I

c.523G>A

1 paper

NM_005918.4

p.T179I

c.536C>T

1 paper

NM_005918.4

p.F180S

c.539T>C

2 papers

NM_005918.4

p.D173N

c.517G>A

1 paper

NM_005918.4

p.V181F

c.541G>T

1 paper

NM_005918.4

p.T170M

c.509C>T

1 paper

NM_005918.4

p.T170P

c.508A>C

1 paper

NM_005918.4

p.L184Q

c.551T>A

1 paper

NM_005918.4

p.V169M

c.505G>A