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.A126S

c.376G>T

Surrounding Variants

2 papers

NM_005918.4

p.A126T

c.376G>A

1 paper

NM_005918.4

p.T125T

c.375C>T

1 paper

NM_005918.4

p.A127T

c.379G>A

1 paper

NM_005918.4

p.L124V

c.370C>G

1 paper

NM_005918.4

p.C128Y

c.383G>A

1 paper

NM_005918.4

p.T123I

c.368C>T

2 papers

NM_005918.4

p.Q130R

c.389A>G

1 paper

NM_005918.4

p.V121M

c.361G>A

1 paper

NM_005918.4

p.I120M

c.360T>G

1 paper

NM_005918.4

p.I120T

c.359T>C

1 paper

NM_005918.4

p.T119M

c.356C>T

1 paper

NM_005918.4

p.P133A

c.397C>G