Publication
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Authors not recorded
Nat Genet2012PMID 22729224PMC3408813stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
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Linked entities
Linked entities (2)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 2
- genePIK3R2civic_curation1.00
- variantPIK3R2 G373Rcivic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 22729224
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| PIK3R2 G373R1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 1 | accepted | EID9420Lymphoblastoid cell lines were derived from patients with megalencephaly syndromes, who had the PIK3R2 p.G373R mutation. PIP3 immunostaining was used to compared PI3K activity among mutant and control… (full text at CIViC) PMID 22729224 · Rivière et al., 2012 · Open in CIViC | civic |