JAK2 NP_004963.1:p.T875N

Preferred Label : JAK2 NP_004963.1:p.T875N;

NCIt synonyms : JAK2 p.T875N; JAK2 NP_004963.1:p.Thr875Asn; Janus Kinase 2 T875N; Tyrosine-Protein Kinase JAK2 T875N; NP_004963.1:p.Thr875Asn; NP_004963.1:p.T875N; JAK2 Thr875Asn; Janus Kinase 2 Thr875Asn; JAK2 p.Thr875Asn; Tyrosine-Protein Kinase JAK2 Thr875Asn; JAK2 T875N;

NCIt definition : A change in the amino acid residue at position 875 in the tyrosine-protein kinase JAK2 protein where threonine has been replaced by asparagine.;

NCIt note : This protein is a constitutively active form of tyrosine-protein kinase JAK2. (Blood. 2006; 108:2770-9);

PubMed : 16804113;

Details

Origin ID

C116966;

UMLS CUI

C3898660;

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.2624C>A [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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