Varaico: Literature-Extracted Genetic Variants

MDH1

78 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are kno...

Pfam Domains

Ldh_1_Naa 5–153UCSClactate/malate dehydrogenase, NAD binding domain

Ldh_1_Caa 156–331UCSClactate/malate dehydrogenase, alpha/beta C-terminal domain

Gene Aliases

HGNC Name

malate dehydrogenase 1

HGNC Previous Name

malate dehydrogenase 1, NAD (soluble)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005917.4

p.V254I

c.760G>A

Surrounding Variants

1 paper

NM_005917.4

p.H253L

c.758A>T

1 paper

NM_005917.4

p.D256N

c.766G>A

1 paper

NM_005917.4

p.A247G

c.740C>G

4 papers

NM_005917.4

p.A243V

c.728C>T

1 paper

NM_005917.4

p.A243T

c.727G>A

2 papers

NM_005917.4

p.R238*

c.712C>T

2 papers

NM_005917.4

p.A237T

c.709G>A

1 paper

NM_005917.4

p.V234I

c.700G>A

1 paper

NM_005917.4

p.A233T

c.697G>A

1 paper

NM_005917.4

p.Q229E

c.685C>G

1 paper

NM_005917.4

p.Q229*

c.685C>T

1 paper

NM_005917.4

p.T225M

c.674C>T