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

3 papers

NM_005530.3

p.M313T

c.938T>C

Surrounding Variants

1 paper

NM_005530.3

p.A311V

c.932C>T

3 papers

NM_005530.3

p.R316C

c.946C>T

1 paper

NM_005530.3

p.R316H

c.947G>A

1 paper

NM_005530.3

p.M318K

c.953T>A

7 papers

NM_005530.3

p.P304H

c.911C>A

1 paper

NM_005530.3

p.A302fs

c.904_905fs

1 paper

NM_005530.3

p.A302_A306delFs

c.904_916del13

1 paper

NM_005530.3

p.G298D

c.893G>A

1 paper

NM_005530.3

p.A330V

c.989C>T

1 paper

NM_005530.3

p.T292M

c.875C>T

1 paper

NM_005530.3

p.S288_V289Splc

c.865-10C>T

1 paper

NM_005530.3

p.I278T

c.833T>C