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
- Myeloproliferative disease
- Source Database
- DisGeNET
- Description
- The major incentives for this review have been the recent description of an activating JAK2 tyrosine kinase mutation (JAK2 (V617F)) in essential thrombocythemia, related myeloproliferative disorders, and the impact on clinical practice from the publication of a major treatment trial.
- Pubmed
- 16456375
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.3516606542292
- Year of publication
- 2006
Drugs