JAK2 NP_004963.1:p.V617F

Preferred Label : JAK2 NP_004963.1:p.V617F;

NCIt synonyms : JAK2 Val617Phe; JAK2 p.Val617Phe; Janus Kinase 2 Val617Phe; Tyrosine-Protein Kinase JAK2 Val617Phe; Janus Kinase-2 V617F; JAK2 NP_004963.1:p.Val617Phe; NP_004963.1:p.Val617Phe; JAK2 V617F; Janus Kinase 2 V617F; JAK2 p.V617F; Tyrosine-Protein Kinase JAK2 V617F; Janus Kinase-2 Val617Phe; NP_004963.1:p.V617F;

NCIt definition : A change in the amino acid residue at position 617 in the tyrosine-protein kinase JAK2 protein where valine has been replaced by phenylalanine.;

Details

Origin ID

C105908;

UMLS CUI

C3829471;

Molecular abnormality of diseases
- Polycythemia Vera [NCIt concept]
- Polycythemia Vera, Polycythemic Phase [NCIt concept]
- Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase [NCIt concept]
- Refractory Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_sequence_variation_encoded_by_gene_mutant
- JAK2 Gene Mutation [NCIt concept]
- JAK2 NM_004972.3:c.1848_1849delinsCT [NCIt concept]
- JAK2 NM_004972.3:c.1849G>T [NCIt concept]
gene_product_variant_of_gene_product
- Tyrosine-Protein Kinase JAK2 [NCIt concept]
is_target
- Gandotinib [NCIt concept]
- Pacritinib [NCIt concept]
- Pacritinib Citrate [NCIt concept]
- Pacritinib Hydrochloride [NCIt concept]
molecular_abnormality_involves_gene
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients