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.L2H

c.5T>A

Surrounding Variants

1 paper

NM_005918.4

p.M1I

c.3G>A

1 paper

NM_005918.4

p.M1I

c.3G>C

1 paper

NM_005918.4

p.M1_L2insFs

c.3_4insA

1 paper

NM_005918.4

p.M1I

c.3G>T

1 paper

NM_005918.4

p.S3F

c.8C>T

2 papers

NM_005918.4

p.M1T

c.2T>C

1 paper

NM_005918.4

p.A6P

c.16G>C

1 paper

NM_005918.4

p.R7W

c.19C>T

1 paper

NM_005918.4

p.R7Q

c.20G>A

1 paper

NM_005918.4

p.R7P

c.20G>C

7 papers

NM_005918.4

p.A9V

c.26C>T

1 paper

NM_005918.4

p.S10T

c.29G>C