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

2 papers

NM_004135.4

p.R213C

c.637C>T

Surrounding Variants

1 paper

NM_004135.4

p.R213H

c.638G>A

1 paper

NM_004135.4

p.E202G

c.605A>G

1 paper

NM_004135.4

p.A195V

c.584C>T

1 paper

NM_004135.4

p.S188Fs

c.562_563delinsAFs

1 paper

NM_004135.4

p.L233F

c.697C>T

1 paper

NM_004135.4

p.L233L

c.699C>T

1 paper

NM_004135.4

p.I161R

c.482T>G

1 paper

NM_004135.4

p.A143V

c.428C>T

1 paper

NM_004135.4

p.Q266P

c.797A>C

1 paper

NM_004135.4

p.P273S

c.817C>T

1 paper

NM_004135.4

p.C284F

c.851G>T

1 paper

NM_004135.4

p.K340Splc

c.1020-10C>G