Activating EGFR Gene Mutation

Preferred Label : Activating EGFR Gene Mutation;

NCIt synonyms : Epidermal Growth Factor Receptor Activating Mutation; Activating HER1 Mutation; Activating ERBB1 Mutation; Activating EGFR Mutation; EGFR Gain of Function Gene Mutation; Activating c-erbB1 Mutation;

NCIt related terms : EGFR Activating Mutation;

NCIt definition : A somatic mutation of the epidermal growth factor receptor gene which encodes a constitutively active 170kDa transmembrane protein, a short transmembrane region, and an intracellular domain.;

Details

Origin ID

C92172;

UMLS CUI

C2984891;

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
- EGFR NP_005219.2:p.L858R [NCIt concept]
- EGFR NP_005219.2:p.T790M [NCIt concept]
- EGFR Protein Variant [NCIt concept]
is_target
- Lazertinib [NCIt concept]
- Olmutinib [NCIt concept]
- Tuxobertinib [NCIt concept]
molecular_abnormality_involves_gene
- EGFR Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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