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

7 papers

NM_005918.4

p.G37R

c.109G>A

Surrounding Variants

7 papers

NM_005918.4

p.G37R

c.109G>C

1 paper

NM_005918.4

p.I36M

c.108C>G

1 paper

NM_005918.4

p.G37E

c.110G>A

1 paper

NM_005918.4

p.P39T

c.115C>A

1 paper

NM_005918.4

p.G35C

c.103G>T

1 paper

NM_005918.4

p.L40V

c.118C>G

1 paper

NM_005918.4

p.G34R

c.100G>A

1 paper

NM_005918.4

p.G34R

c.100G>C

1 paper

NM_005918.4

p.L40P

c.119T>C

1 paper

NM_005918.4

p.S33C

c.98C>G

1 paper

NM_005918.4

p.A32T

c.94G>A

1 paper

NM_005918.4

p.G31G

c.93G>A