Activating PIK3R1 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the PIK3R1 gene that results in constitutive activation of phosphatidylinositol 3-kinase regulatory subunit alpha and its downstream signaling pathways.

**Synonyms:** - Activating GRB1 Gene Mutation - Activating Phosphoinositide-3-Kinase Regulatory Subunit 1 Gene Mutation - Activating p85-ALPHA Gene Mutation - PIK3R1 Activating Mutation