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
- myelofibrosis
- Source Database
- DisGeNET
- Description
- The gain-of-function JAK2 V617F mutation shifts the phenotype of essential thrombocythemia and chronic idiopathic myelofibrosis to more erythremic and less thrombocythemic: a molecular, histologic, and clinical study.
- Pubmed
- 17875526
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.229044280312592
- Year of publication
- 2007
Drugs