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

2 papers

NM_005530.3

p.M239T

c.716T>C

Surrounding Variants

1 paper

NM_005530.3

p.M239fs

c.715_716fs

1 paper

NM_005530.3

p.S260Splc

c.779+1G>A

1 paper

NM_005530.3

p.D233G

c.698A>G

1 paper

NM_005530.3

p.L232P

c.695T>C

4 papers

NM_005530.3

p.E229K

c.685G>A

1 paper

NM_005530.3

p.V218L

c.652G>C

1 paper

NM_005530.3

p.R216Fs

c.647_648delinsAFs

1 paper

NM_005530.3

p.R216fs

c.646_647fs

1 paper

NM_005530.3

p.K214N

c.642A>C

1 paper

NM_005530.3

p.K214N

c.642A>T

1 paper

NM_005530.3

p.M204I

c.612G>A

2 papers

NM_005530.3

p.G268R

c.802G>A