Annotation Detail

Information
Associated Genes
JAK2
Associated Variants
JAK2 MUTATION
JAK2 MUTATION
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
Associated Disease
Leukemia, Myelocytic, Acute
Source Database
DisGeNET
Description
The JAK2 V617F mutation in de novo acute myelogenous leukemias.
Pubmed
16247455
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.28478282280643
Year of publication
2006
Drugs