Annotation Detail
Information
- Associated Genes
- IDH2
- Associated Variants
-
IDH2 p.Arg261His (p.R261H)
(
ENST00000540499.2,
ENST00000330062.8,
ENST00000559482.5 )
IDH2 p.Arg172Lys (p.R172K) ( ENST00000540499.2, ENST00000559482.5, ENST00000330062.8 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH2 p.Arg261His (p.R261H) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
IDH2 p.Arg172Lys (p.R172K) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 ) - Associated Disease
- Carcinogenesis
- Source Database
- DisGeNET
- Description
- The R132H and R172K mutations of isocitrate dehydrogenase 1 and 2, respectively, (IDH1 and IDH2) have neomorphic activity of generating 2-hydroxyglutarate (2-HG) which has been implicated in oncogenesis.
- Pubmed
- 25251602
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00434306995328485
- Year of publication
- 2014
Drugs