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PIK3CA NM_006218.1:c.3141T>G

MedGen UID:
475764
•Concept ID:
C3274131
•
Cell or Molecular Dysfunction
Synonyms: NM_006218.1:c.3141T>G; p110-alpha c.3141T>G; Phosphoinositide-3-Kinase, Catalytic, Alpha Polypeptide c.3141T>G; PI3K c.3141T>G; PIK3CA c.3141T>G

Definition

A nucleotide substitution at position 3141 of the coding sequence of the PIK3CA gene where thymine has been mutated to guanine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPIK3CA NM_006218.1:c.3141T>G

Recent clinical studies

Therapy

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N
Neurogenetics 2018 May;19(2):77-91. Epub 2018 Mar 16 doi: 10.1007/s10048-018-0540-1. PMID: 29549527Free PMC Article

Clinical prediction guides

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).
Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N
Neurogenetics 2018 May;19(2):77-91. Epub 2018 Mar 16 doi: 10.1007/s10048-018-0540-1. PMID: 29549527Free PMC Article

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