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.D88fs

c.262_263fs

Surrounding Variants

1 paper

NM_005918.4

p.D88N

c.262G>A

1 paper

NM_005918.4

p.D88G

c.263A>G

1 paper

NM_005918.4

p.C89G

c.265T>G

1 paper

NM_005918.4

p.C89Y

c.266G>A

1 paper

NM_005918.4

p.L90V

c.268C>G

1 paper

NM_005918.4

p.Q85_P87insFs

c.254_261dup8

1 paper

NM_005918.4

p.E84K

c.250G>A

1 paper

NM_005918.4

p.G92S

c.274G>A

1 paper

NM_005918.4

p.G92C

c.274G>T

1 paper

NM_005918.4

p.P83S

c.247C>T

1 paper

NM_005918.4

p.G82R

c.244G>A

1 paper

NM_005918.4

p.D94N

c.280G>A