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

7 papers

NM_005918.4

p.V160M

c.478G>A

Surrounding Variants

1 paper

NM_005918.4

p.V160A

c.479T>C

1 paper

NM_005918.4

p.G159R

c.475G>A

1 paper

NM_005918.4

p.G159R

c.475G>C

1 paper

NM_005918.4

p.H158Q

c.474T>A

1 paper

NM_005918.4

p.H158Q

c.474T>G

1 paper

NM_005918.4

p.N162D

c.484A>G

1 paper

NM_005918.4

p.H158N

c.472C>A

1 paper

NM_005918.4

p.H158D

c.472C>G

2 papers

NM_005918.4

p.N162S

c.485A>G

1 paper

NM_005918.4

p.K157N

c.471G>C

1 paper

NM_005918.4

p.K157N

c.471G>T

1 paper

NM_005918.4

p.P163H

c.488C>A