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.K110R

c.329A>G

Surrounding Variants

1 paper

NM_005917.4

p.A114T

c.340G>A

1 paper

NM_005917.4

p.N105D

c.313A>G

1 paper

NM_005917.4

p.D117G

c.350A>G

1 paper

NM_005917.4

p.L102L

c.306G>A

1 paper

NM_005917.4

p.L102P

c.305T>C

6 papers

NM_001199111.2

p.A138V

c.413C>T

NM_005917.4

p.A120V

c.359C>T

1 paper

NM_005917.4

p.R98G

c.292A>G

1 paper

NM_005917.4

p.E97D

c.291G>C

1 paper

NM_005917.4

p.E97D

c.291G>T

1 paper

NM_005917.4

p.S123L

c.368C>T

1 paper

NM_005917.4

p.E97K

c.289G>A

1 paper

NM_005917.4

p.A70T

c.208G>A