Activating ERBB2 Mutation

Preferred Label : Activating ERBB2 Mutation;

NCIt synonyms : HER-2 Activating Mutation; c-erbB2 Activating Mutation; Activating HER2 Mutation; ERBB2 Activating Mutation; HER2/Neu Activating Mutation; CD340 Activating Mutation; Activating ERBB2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the ERBB2 gene that results in constitutive receptor tyrosine-protein kinase erbB-2-dependent signal transduction and activation of downstream signaling pathways.;

NCI Metathesaurus CUI : CL512852;

Details

Origin ID

C129700;

UMLS CUI

C4329262;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- ERBB2 NP_004439.2:p.D769H [NCIt concept]
- ERBB2 NP_004439.2:p.D769Y [NCIt concept]
- ERBB2 NP_004439.2:p.E321G [NCIt concept]
- ERBB2 Protein Variant [NCIt concept]
is_target
- Tuxobertinib [NCIt concept]
molecular_abnormality_involves_gene
- ERBB2 Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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