Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.Y524N
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PIK3CD

NM_005026.5:p.Y524N

Associated Papers

EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review.

Xiang QY et al.

Frontiers in Immunology, 2025

Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity.

Li Q et al.

Journal of Clinical Immunology, 2024

Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype.

Zhao P et al.

Pediatric Rheumatology Online Journal, 2024

The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).

Fekrvand S et al.

Immunological Investigations, 2022

Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene.

Wang W et al.

Frontiers in Immunology, 2022

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Thouenon R et al.

Frontiers in Pediatrics, 2021

Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant.

Marzollo A et al.

Frontiers in Pediatrics, 2021

Identification of a novel de novo gain-of-function mutation of PIK3CD in a patient with activated phosphoinositide 3-kinase δ syndrome.

Luo Y et al.

Clinical Immunology (orlando, Fla.), 2018

Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome.

Wang Y et al.

Journal of Clinical Immunology, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."