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.K165R

c.494A>G

Surrounding Variants

1 paper

NM_005918.4

p.N164S

c.491A>G

1 paper

NM_005918.4

p.I166T

c.497T>C

1 paper

NM_005918.4

p.I166M

c.498C>G

1 paper

NM_005918.4

p.P163H

c.488C>A

1 paper

NM_005918.4

p.G168S

c.502G>A

2 papers

NM_005918.4

p.N162S

c.485A>G

1 paper

NM_005918.4

p.N162D

c.484A>G

1 paper

NM_005918.4

p.V169M

c.505G>A

1 paper

NM_005918.4

p.T170P

c.508A>C

1 paper

NM_005918.4

p.T170M

c.509C>T

1 paper

NM_005918.4

p.V160A

c.479T>C

7 papers

NM_005918.4

p.V160M

c.478G>A