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.N24S

c.71A>G

Surrounding Variants

1 paper

NM_005918.4

p.N24I

c.71A>T

1 paper

NM_005918.4

p.A25P

c.73G>C

1 paper

NM_005918.4

p.A25D

c.74C>A

1 paper

NM_005918.4

p.K26*

c.76A>T

1 paper

NM_005918.4

p.V27I

c.79G>A

1 paper

NM_005918.4

p.V27L

c.79G>C

1 paper

NM_005918.4

p.V27L

c.79G>T

1 paper

NM_005918.4

p.V29A

c.86T>C

1 paper

NM_005918.4

p.L30V

c.88C>G

1 paper

NM_005918.4

p.G31A

c.92G>C

1 paper

NM_005918.4

p.G31G

c.93G>A

1 paper

NM_005918.4

p.A32T

c.94G>A