JAK2 NP_004963.1:p.I960V

Preferred Label : JAK2 NP_004963.1:p.I960V;

NCIt synonyms : Tyrosine-Protein Kinase JAK2 I960V; Janus Kinase 2 I960V; JAK2 p.I960V; JAK2 Ile960Val; Janus Kinase 2 Ile960Val; JAK2 p.Ile960Val; Tyrosine-Protein Kinase JAK2 Ile960Val; NP_004963.1:p.I960V; NP_004963.1:p.Ile960Val; JAK2 NP_004963.1:p.Ile690Val; JAK2 I960V;

NCIt definition : A change in the amino acid residue at position 960 in the tyrosine-protein kinase JAK2 protein where isoleucine has been replaced by valine.;

Details

Origin ID

C105915;

UMLS CUI

C3829474;

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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