Terminology Service for NFDI4Health

Activating PIK3R1 Gene Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C142117


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

Term info

Label

Activating PIK3R1 Gene Mutation

Synonyms
  • Activating GRB1 Gene Mutation
  • Activating PIK3R1 Gene Mutation
  • Activating Phosphoinositide-3-Kinase Regulatory Subunit 1 Gene Mutation
  • Activating p85-ALPHA Gene Mutation
  • PIK3R1 Activating Mutation
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

Activating PIK3R1 Gene Mutation

NCI META CUI

CL540109

Preferred Name

Activating PIK3R1 Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

code

C142117