JAK2 Protein Variant

Preferred Label : JAK2 Protein Variant;

NCIt synonyms : JAK-2 Protein Variant; Janus Kinase 2 Protein Variant; Tyrosine-Protein Kinase JAK2 Protein Variant;

NCIt definition : A variation in the amino acid sequence for the tyrosine-protein kinase JAK2 protein.;

Details

Origin ID

C105906;

UMLS CUI

C3829469;

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]
- JAK2 NM_004972.3:c.2624C>A [NCIt concept]
- JAK2 NM_004972.3:c.2792A>G [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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