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
Tumor Progression
Source Database
DisGeNET
Description
A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression.
Pubmed
23558526
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2013
Drugs