Annotation Detail
Information
- Associated Genes
- DNMT3A
- Associated Variants
-
IDH2 p.Arg140Gln (p.R140Q)
(
ENST00000540499.2,
ENST00000330062.8,
ENST00000559482.5 )
DNMT3A p.Arg882Leu (p.R882L) ( ENST00000402667.1, ENST00000683760.1, ENST00000264709.7, ENST00000321117.10, ENST00000380746.8 )
DNMT3A p.Arg882Pro (p.R882P) ( ENST00000402667.1, ENST00000683760.1, ENST00000321117.10, ENST00000380746.8, ENST00000264709.7 )
DNMT3A p.Arg882His (p.R882H) ( ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1, ENST00000683760.1 )
IDH2 p.Arg140Gln (p.R140Q) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
DNMT3A p.Arg882Leu (p.R882L) ( ENST00000683760.1, ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1 )
DNMT3A p.Arg882Pro (p.R882P) ( ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1, ENST00000683760.1 )
DNMT3A p.Arg882His (p.R882H) ( ENST00000264709.7, ENST00000321117.10, ENST00000380746.8, ENST00000402667.1, ENST00000683760.1 ) - Associated Disease
- Leukemia, Myelocytic, Acute
- Source Database
- DisGeNET
- Description
- To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse model of AML in which mice were transplanted with nucleophosmin1 (NPM)(+/-) hematopoietic stem/progenitor cells cotransduced with four mutant genes (NPMc, IDH2/R140Q, DNMT3A/R882H, and FLT3/ITD), which often occur simultaneously in human AML patients.
- Pubmed
- 25795706
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.017567776815099
- Year of publication
- 2015
Drugs