Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R1
Variant:p.R93W
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PIK3R1

NM_181523.3:p.R93W

Associated Papers

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.

Schmitz EG et al.

The Journal of Allergy and Clinical Immunology, 2026

Molecular basis for regulation of the class I phosphoinositide 3-kinases (PI3Ks), and their targeting in human disease.

Shaw AL et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025

Apocrine carcinoma of the breast: distinctive metabolic reprogramming and high-frequency PIK3CA mutations revealed by molecular and immunohistochemical analysis.

Nakamura H et al.

Histopathology, 2025

Next-Generation Sequencing in Breast Cancer Patients: Real-World Data for Precision Medicine.

Lee H et al.

Cancer Research and Treatment, 2024

Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Robinson PS et al.

Nature Genetics, 2021

Signatures of somatic mutations and gene expression from p16INK4A positive head and neck squamous cell carcinomas (HNSCC).

Saba NF et al.

Plos One, 2020

Clonal Expansion and Diversification of Cancer-Associated Mutations in Endometriosis and Normal Endometrium.

Suda K et al.

Cell Reports, 2018

High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability.

Cheung LW et al.

Cancer Discovery, 2011

A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas.

Rudd ML et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

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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."