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
- Primary myelofibrosis
- Source Database
- DisGeNET
- Description
- A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM.
- Pubmed
- 17266061
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.294051045438073
- Year of publication
- 2007
Drugs