Annotation Detail

Information
Associated Genes
STAT3
Associated Variants
STAT3 MUTATION
STAT3 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
Thus, while JAK2 V617F is uncommon in de novo AML and probably does not occur in lymphoid malignancy, unexplained STAT3 activation is common in AML.
Pubmed
16598306
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.127881745811993
Year of publication
2006
Drugs