PIK3CA NP_006209.2:p.E542X

Preferred Label : PIK3CA NP_006209.2:p.E542X;

NCIt synonyms : Phosphatidylinositol-4,5-Bisphosphate 3-Kinase 110 kDa Catalytic Subunit Alpha E542X; Phosphoinositide-3-Kinase Catalytic Alpha Polypeptide E542X; PIK3CA Glu542Xxx; PIK3CA p.Glu542Xxx; PI3Kalpha E542X; PIK3CA E542 Mutation; Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha Isoform E542X; PIK3CA NP_006209.2:p.Glu542Xxx; NP_006209.2:p.Glu542Xxx; p110alpha E542X; PIK3CA E542X; PIK3CA p.E542X;

NCIt definition : A change in the amino acid residue at position 542 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by another amino acid.;

Détails

Origin ID

C107480;

UMLS CUI

C3828558;

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
- PIK3CA Exon 9 Mutation [NCIt concept]
- PIK3CA Gene Mutation [NCIt concept]
gene_product_variant_of_gene_product
- Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha Isoform [NCIt concept]
molecular_abnormality_involves_gene
- PIK3CA Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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