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.D57G

c.170A>G

Surrounding Variants

2 papers

NM_005918.4

p.D57N

c.169G>A

1 paper

NM_005918.4

p.I58V

c.172A>G

1 paper

NM_005918.4

p.Y56C

c.167A>G

1 paper

NM_005918.4

p.A59T

c.175G>A

1 paper

NM_005918.4

p.A59E

c.176C>A

1 paper

NM_005918.4

p.A59V

c.176C>T

1 paper

NM_005918.4

p.H60P

c.179A>C

1 paper

NM_005918.4

p.H60R

c.179A>G

1 paper

NM_005918.4

p.T54A

c.160A>G

1 paper

NM_005918.4

p.T61I

c.182C>T

1 paper

NM_005918.4

p.P62T

c.184C>A

1 paper

NM_005918.4

p.R52H

c.155G>A