Activating PIK3CB Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the PIK3CB gene that results in constitutive activation of phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform and its downstream signaling pathways.

**Synonyms:** - P110BETA Activating Gene Mutation - PI3KBETA Activating Gene Mutation - PIK3C1 Activating Gene Mutation - PIK3CB Activating Gene Mutation - PIK3CB Activating Mutation - PIK3CB Gain - PIK3CB Gain of Function - PIK3CB Gain of Function Mutation - Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta Activating Gene Mutation - p110-Beta Activating Gene Mutation