JAK2 NP_004963.1:p.V617X

Preferred Label : JAK2 NP_004963.1:p.V617X;

NCIt synonyms : JAK2 V617X; Tyrosine-Protein Kinase JAK2 V617X; JAK2 p.V617X; Janus Kinase 2 V617X; JAK2 Val617Xxx; NP_004963.1:p.V617X; Tyrosine-Protein Kinase JAK2 Val617Xxx; JAK2 p.Val617Xxx; Janus Kinase 2 Val617Xxx; JAK2 NP_004963.1:p.Val617Xxx; JAK2 p.V617; NP_004963.1:p.Val617Xxx;

NCIt related terms : JAK2 V617;

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: A change in the amino acid residue at position 617 in the tyrosine-protein kinase JAK2 protein where valine has been replaced by another amino acid. A change to phenylalanine at this position is associated with polycythemia vera.;

Details

Origin ID

C117283;

UMLS CUI

C3898659;

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]
gene_product_variant_of_gene_product
- Tyrosine-Protein Kinase JAK2 [NCIt concept]
molecular_abnormality_involves_gene
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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