Varaico: Literature-Extracted Genetic Variants

IDH3G

41 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 56–379UCSCIsocitrate/isopropylmalate dehydrogenase

Gene Aliases

HGNC Name

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

HGNC Previous Names

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

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004135.4

p.V385I

c.1153G>A

Surrounding Variants

1 paper

NM_004135.4

p.R384C

c.1150C>T

1 paper

NM_004135.4

p.V379_H382delFs

c.1136_1145del10

1 paper

NM_004135.4

p.Q377*

c.1129C>T

1 paper

NM_004135.4

p.G367R

c.1099G>C

1 paper

NM_004135.4

p.G367R

c.1099G>A

1 paper

NM_004135.4

p.P364L

c.1091C>T

1 paper

NM_004135.4

p.N360_M361Splc

c.1080+14C>T

1 paper

NM_004135.4

p.V352V

c.1056C>G

1 paper

NM_004135.4

p.R349C

c.1045C>T

1 paper

NM_004135.4

p.K340Splc

c.1020-10C>G

1 paper

NM_004135.4

p.C284F

c.851G>T

1 paper

NM_004135.4

p.P273S

c.817C>T