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.K205E

c.613A>G

Surrounding Variants

1 paper

NM_001199111.2

p.Q221*

c.661C>T

1 paper

NM_005917.4

p.V200M

c.598G>A

1 paper

NM_005917.4

p.Y210D

c.628T>G

1 paper

NM_005917.4

p.Y210C

c.629A>G

1 paper

NM_005917.4

p.W218R

c.652T>A

1 paper

NM_005917.4

p.K220R

c.659A>G

1 paper

NM_005917.4

p.G221R

c.661G>C

2 papers

NM_005917.4

p.H187Y

c.559C>T

1 paper

NM_005917.4

p.T225M

c.674C>T

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.A233T

c.697G>A