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.F155L

c.463T>C

Surrounding Variants

1 paper

NM_005918.4

p.F155L

c.465C>A

1 paper

NM_005918.4

p.F155L

c.465C>G

1 paper

NM_005918.4

p.V154L

c.460G>C

1 paper

NM_005918.4

p.E153V

c.458A>T

1 paper

NM_005918.4

p.E153Q

c.457G>C

1 paper

NM_005918.4

p.E153*

c.457G>T

1 paper

NM_005918.4

p.A152Fs

c.455delinsACAFs

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.H158N

c.472C>A

1 paper

NM_005918.4

p.H158D

c.472C>G

1 paper

NM_005918.4

p.H158Q

c.474T>A