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.G155*

c.463G>T

Surrounding Variants

1 paper

NM_005530.3

p.V140A

c.419T>C

3 papers

NM_005530.3

p.D139E

c.417T>A

3 papers

NM_005530.3

p.D139E

c.417T>G

1 paper

NM_005530.3

p.T135fs

c.403_404fs

1 paper

NM_005530.3

p.T135fs

c.403_404fs

1 paper

NM_005530.3

p.T135delFs

c.403delA

1 paper

NM_005530.3

p.I130V

c.388A>G

1 paper

NM_005530.3

p.C127R

c.379T>C

4 papers

NM_005530.3

p.A122T

c.364G>A

1 paper

NM_005530.3

p.R115G

c.343C>G

1 paper

NM_005530.3

p.M110V

c.328A>G

1 paper

NM_005530.3

p.P98L

c.293C>T