Gene entry
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
- Chromosome
- 3
- Cytoband
- 3q26.32
- Variants (rsID)
- 17
PIK3CA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q26.32). Its official name is “phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha”. The reference table lists 17 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1057519942Pathogenicsingle nucleotide variantBreast neoplasm|Neoplasm of uterine cervix|Glioblastoma|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Non-Hodgkin lymphoma|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Cowden syndrome|Cowden syndrome 5|Hypertelorism|Megalencephaly, autosomal dominant|Intestinal duplication|Diaphragmatic eventration|Abnormality of the hairline
- rs867262025Pathogenicsingle nucleotide variantLung adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the large intestine|Transitional cell carcinoma of the bladder|Breast neoplasm|Brainstem glioma|Squamous cell carcinoma of the head and neck|Neoplasm of uterine cervix|Inborn genetic diseases|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes|Cowden syndrome
- rs113613074Uncertain significancesingle nucleotide variantCowden syndrome|13 conditions
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.