Annotation Detail
Information
- Associated Genes
- TYK2
- Associated Variants
-
TYK2 MUTATION
TYK2 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
- polycythemia vera
- Source Database
- DisGeNET
- Description
- JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor.
- Pubmed
- 16239216
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2005
Drugs