Varaico: Literature-Extracted Genetic Variants

IDH3A

71 papers

RefSeq Summary

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor...

Pfam Domains

Iso_dhaa 33–358UCSCIsocitrate/isopropylmalate dehydrogenase

Gene Aliases

HGNC Name

isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha

HGNC Previous Names

isocitrate dehydrogenase 3 (NAD+) alpha; isocitrate dehydrogenase (NAD(+)) 3 alpha

Papers

RefSeq ID

Protein change

DNA change

1–12 of 70 variants

7 papers

NM_005530.3

p.P304H

c.911C>A

4 papers

NM_005530.3

p.A122T

c.364G>A

4 papers

NM_005530.3

p.E229K

c.685G>A

3 papers

NM_005530.3

p.D139E

c.417T>A

3 papers

NM_005530.3

p.D139E

c.417T>G

3 papers

NM_005530.3

p.M313T

c.938T>C

3 papers

NM_005530.3

p.R316C

c.946C>T

2 papers

NM_005530.3

p.A175V

c.524C>T

2 papers

NM_005530.3

p.M239T

c.716T>C

2 papers

NM_005530.3

p.G268R

c.802G>A

2 papers

NM_005530.3

p.G268R

c.802G>C

2 papers

NM_005530.3

p.R360C

c.1078C>T