Annotation Detail

Information
Associated Genes
IDH2
Associated Variants
IDH2 p.Arg172Lys (p.R172K) ( ENST00000540499.2, ENST00000559482.5, ENST00000330062.8 )
IDH2 p.Arg140Gln (p.R140Q) ( ENST00000540499.2, ENST00000330062.8, ENST00000559482.5 )
IDH2 p.Arg172Lys (p.R172K) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
IDH2 p.Arg140Gln (p.R140Q) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
Associated Disease
Leukemia, Myelocytic, Acute
Source Database
DisGeNET
Description
Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.
Pubmed
23949315
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0357656518977951
Year of publication
2013
Drugs