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.K105E

c.313A>G

Surrounding Variants

5 papers

NM_005918.4

p.R104G

c.310A>G

1 paper

NM_005918.4

p.G107V

c.320G>T

1 paper

NM_005918.4

p.V102A

c.305T>C

1 paper

NM_005918.4

p.P99Q

c.296C>A

1 paper

NM_005918.4

p.P99L

c.296C>T

1 paper

NM_005918.4

p.I98S

c.293T>G

1 paper

NM_005918.4

p.I98V

c.292A>G

1 paper

NM_005918.4

p.V97A

c.290T>C

1 paper

NM_005918.4

p.V97I

c.289G>A

1 paper

NM_005918.4

p.V95A

c.284T>C

1 paper

NM_005918.4

p.D94E

c.282T>A

1 paper

NM_005918.4

p.D94E

c.282T>G