Activating BRAF Mutation

Preferred Label : Activating BRAF Mutation;

NCIt synonyms : BRAF Activating Mutation; v-raf Murine Sarcoma Viral Oncogene Homolog B1 Activating Mutation; v-raf Murine Sarcoma Viral Oncogene Homolog B Activating Mutation; B-RAF1 Activating Mutation; B-Raf Proto-Oncogene, Serine/Threonine Kinase Activating Mutation; B-RAF Activating Mutation; Activating BRAF1 Mutation; Activating BRAF Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the BRAF gene that results in constitutive activation of both serine/threonine-protein kinase B-raf and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL537978;

Détails

Origin ID

C139795;

UMLS CUI

C4682498;

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_mutant_encodes_gene_product_sequence_variation
- BRAF NP_004324.2:p.V600E [NCIt concept]
- BRAF Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- BRAF Gene [NCIt concept]
related_to_genetic_biomarker
- BRAF Gene [NCIt concept]

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