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

2 papers

NM_005918.4

p.K203N

c.609G>T

Surrounding Variants

2 papers

NM_005918.4

p.K203N

c.609G>C

1 paper

NM_005918.4

p.I205V

c.613A>G

1 paper

NM_005918.4

p.A201D

c.602C>A

1 paper

NM_005918.4

p.I206S

c.617T>G

1 paper

NM_005918.4

p.H200Q

c.600T>A

1 paper

NM_005918.4

p.H200Q

c.600T>G

7 papers

NM_005918.4

p.P207L

c.620C>T

1 paper

NM_005918.4

p.G199D

c.596G>A

5 papers

NM_005918.4

p.G199fs

c.595_596fs

1 paper

NM_005918.4

p.L208P

c.623T>C

5 papers

NM_005918.4

p.G199delFs

c.596delG

1 paper

NM_005918.4

p.I209M

c.627C>G