Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.S312C
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PIK3CD

NM_005026.5:p.S312C

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectives.

IJspeert H et al.

Immunotherapy Advances, 2024

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › CCP_ALL_source

Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.

Miano M et al.

American Journal of Hematology, 2021

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093

Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta.

Wentink MWJ et al.

Frontiers in Immunology, 2018

Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours.

Carén H et al.

British Journal of Cancer, 2007

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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."