PIK3CA NP_006209.2:p.H1047L

Preferred Label : PIK3CA NP_006209.2:p.H1047L;

NCIt synonyms : NP_006209.2:p.His1047Leu; Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha Isoform H1047L; p110alpha H1047L; PIK3CA p.His1047Leu; PIK3CA H1047L; Phosphatidylinositol-4,5-Bisphosphate 3-Kinase 110 kDa Catalytic Subunit Alpha H1047L; Phosphoinositide-3-Kinase Catalytic Alpha Polypeptide H1047L; PI3Kalpha H1047L; PIK3CA NP_006209.2:p.His1047Leu; PIK3CA His1047Leu; PIK3CA p.H1047L;

NCIt definition : A change in the amino acid residue at position 1047 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where histidine has been replaced by leucine.;

Details

Origin ID

C98480;

UMLS CUI

C3274128;

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 20 Mutation [NCIt concept]
- PIK3CA Gene Mutation [NCIt concept]
- PIK3CA NM_006218.1:c.3140A>T [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]

Keyword's position in hierarchy(ies) :

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