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.V194A

c.581T>C

Surrounding Variants

2 papers

NM_005918.4

p.V194I

c.580G>A

1 paper

NM_005918.4

p.V194F

c.580G>T

1 paper

NM_005918.4

p.P195T

c.583C>A

1 paper

NM_005918.4

p.V196D

c.587T>A

1 paper

NM_005918.4

p.R191Q

c.572G>A

1 paper

NM_005918.4

p.R191P

c.572G>C

1 paper

NM_005918.4

p.R191*

c.571C>T

1 paper

NM_005918.4

p.A190V

c.569C>T

5 papers

NM_005918.4

p.G199delFs

c.596delG

5 papers

NM_005918.4

p.G199fs

c.595_596fs

1 paper

NM_005918.4

p.G199D

c.596G>A

2 papers

NM_005918.4

p.P189A

c.565C>G