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.R14G

c.40C>G

Surrounding Variants

1 paper

NM_005918.4

p.R14H

c.41G>A

1 paper

NM_005918.4

p.R15S

c.43C>A

1 paper

NM_005918.4

p.A12V

c.35C>T

1 paper

NM_005918.4

p.S16R

c.46A>C

1 paper

NM_005918.4

p.S16I

c.47G>T

1 paper

NM_005918.4

p.S16R

c.48C>A

1 paper

NM_005918.4

p.S16R

c.48C>G

1 paper

NM_005918.4

p.A11V

c.32C>T

1 paper

NM_005918.4

p.S10T

c.29G>C

1 paper

NM_005918.4

p.S18R

c.52A>C

1 paper

NM_005918.4

p.S18R

c.54C>A

1 paper

NM_005918.4

p.S18R

c.54C>G