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

2 papers

NM_005917.4

p.Y18F

c.53A>T

Surrounding Variants

1 paper

NM_005917.4

p.Q15L

c.44A>T

2 papers

NM_005917.4

p.G14D

c.41G>A

1 paper

NM_005917.4

p.S23G

c.67A>G

1 paper

NM_005917.4

p.S23N

c.68G>A

1 paper

NM_005917.4

p.I24F

c.70A>T

1 paper

NM_005917.4

p.A12V

c.35C>T

1 paper

NM_005917.4

p.G25R

c.73G>C

2 papers

NM_005917.4

p.G27R

c.79G>A

1 paper

NM_005917.4

p.G27R

c.79G>C

1 paper

NM_005917.4

p.S28P

c.82T>C

1 paper

NM_005917.4

p.V7V

c.21C>G

1 paper

NM_005917.4

p.V29A

c.86T>C