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

Selected Variant

1 paper

NM_005530.3

p.M204I

c.612G>A

Surrounding Variants

1 paper

NM_005530.3

p.M204I

c.612G>C

1 paper

NM_005530.3

p.M204I

c.612G>T

1 paper

NM_005530.3

p.A197P

c.589G>C

1 paper

NM_005530.3

p.T196M

c.587C>T

1 paper

NM_005530.3

p.S193N

c.578G>A

1 paper

NM_005530.3

p.F184L

c.552T>A

1 paper

NM_005530.3

p.F184L

c.552T>G

1 paper

NM_005530.3

p.F184L

c.550T>C

1 paper

NM_005530.3

p.R178H

c.533G>A

1 paper

NM_005530.3

p.K177R

c.530A>G

1 paper

NM_005530.3

p.S176R

c.528C>A

1 paper

NM_005530.3

p.S176R

c.528C>G