Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R1
Variant:p.N564D
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PIK3R1

NM_181523.3:p.N564D

Associated Papers

Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.

Chambwe N et al.

Scientific Reports, 2025

41423517 (PubMed )
Supplement: 41598_2025_33082_MOESM2_ESM.xlsx › GSCvariants

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Cellular heterogeneity and therapeutic response profiling of human IDH+ glioma stem cell cultures.

Chambwe N et al.

Biorxiv : the Preprint Server for Biology, 2025

40766425 (PubMed )
Supplement: media-2.xlsx › GSCvariants

Advancing Precision Oncology: Whole-Exome Sequencing in Endometrial Cancer Liquid-Based Cytology.

Takamatsu R et al.

Archives of Pathology & Laboratory Medicine, 2025

Gastric carcinoma harbouring loss‑of‑function mutations in the PIK3R1, ATRX and RBM10 genes exhibits diverse histological features associated with EBV infection and TP53 inactivation: A case report.

Jeong SU et al.

Oncology Letters, 2025

MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.

Friker LL et al.

Acta Neuropathologica, 2025

39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_ESM.xlsx › Sheet1

Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.

Schwarz JM et al.

International Journal of Molecular Sciences, 2025

Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.

Huang J et al.

Frontiers in Immunology, 2025

39931062 (PubMed )
Supplement: Table1.xlsx › Sheet1

Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.

Dsouza NR et al.

International Journal of Molecular Sciences, 2024

ASXL1 inactivation and reduced H3K27me3 across central nervous system tumors.

Zhang KY et al.

Acta Neuropathologica, 2024

39141113 (PubMed )
Supplement: 401_2024_2785_MOESM2_ESM.xlsx › STab2

Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.

Kuentz P et al.

The British Journal of Dermatology, 2024

Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.

Li T et al.

Cancer Medicine, 2024

38770632 (PubMed )
Supplement: CAM4-13-e7227-s001.xlsx › Table_S2

Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes.

Dsouza NR et al.

Life (basel, Switzerland), 2024

Glioma genetic profiles associated with electrophysiologic hyperexcitability.

Tobochnik S et al.

Neuro-oncology, 2024

A Novel Type of IDH-wildtype Glioma Characterized by Gliomatosis Cerebri-like Growth Pattern, TERT Promoter Mutation, and Distinct Epigenetic Profile.

Muench A et al.

The American Journal of Surgical Pathology, 2023

A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.

Wilke MVMB et al.

Molecular Genetics & Genomic Medicine, 2023

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Suppl._Table_6

Mesonephric-like Adenocarcinoma of the Uterine Corpus: Genomic and Immunohistochemical Profiling with Comprehensive Clinicopathological Analysis of 17 Consecutive Cases from a Single Institution.

Koh HH et al.

Biomedicines, 2023

Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).

Richards CE et al.

International Journal of Molecular Sciences, 2023

37445722 (PubMed )
Supplement: ijms-24-10545-s001.zip › PTPN11_paper_supplementary_tables_25042023.pdf

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

Bioinformatics and In silico approaches to identify novel biomarkers and key pathways for cancers that are linked to the progression of female infertility: A comprehensive approach for drug discovery.

Hossain MA et al.

Plos One, 2023

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.

Cao Y et al.

Genetics in Medicine Open, 2023

Cytogenetic and Molecular Characterization of IDH-Wildtype Glioblastomas and Grade 4 IDH-Mutant Astrocytomas with Unusual Histology.

Ahrendsen JT et al.

Journal of Neuropathology and Experimental Neurology, 2022

Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Lucas CG et al.

Acta Neuropathologica, 2022

35945463 (PubMed )
Supplement: 401_2022_2478_MOESM1_ESM.xlsx › Table_S5

Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia.

Pilheden M et al.

Hemasphere, 2022

36204688 (PubMed )
Supplement: hs9-6-e785-s001.xlsx › S6_Cancer-associated_mutations

The Impact of PIK3R1 Mutations and Insulin-PI3K-Glycolytic Pathway Regulation in Prostate Cancer.

Chakraborty G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

Fundamental immune-oncogenicity trade-offs define driver mutation fitness.

Hoyos D et al.

Nature, 2022

35545680 (PubMed )
Supplement: 41586_2022_4696_MOESM1_ESM.pdf

Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Lee BCH et al.

Nature Communications, 2022

35581206 (PubMed )
Supplement: 41467_2022_29920_MOESM3_ESM.xlsx › SD7

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › gene_aberrations

DIPG Harbors Alterations Targetable by MEK Inhibitors, with Acquired Resistance Mechanisms Overcome by Combinatorial Inhibition.

Izquierdo E et al.

Cancer Discovery, 2022

Environmental and sex-specific molecular signatures of glioma causation.

Claus EB et al.

Neuro-oncology, 2022

Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma.

Williams G et al.

Plos One, 2022

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S2.Somatic_Findings_Summary

Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.

Byron SA et al.

Cancer Research, 2021

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.

Cottrell CE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Lundgren S et al.

Leukemia, 2021

33785863 (PubMed )
Supplement: 41375_2021_1231_MOESM3_ESM.xlsx › Book1

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Pedrosa L et al.

Scientific Reports, 2021

33479306 (PubMed )
Supplement: 41598_2020_80376_MOESM1_ESM.xlsx › Table_S2._Mutational_data

Integrated Genomic Characterization of the Human Immunome in Cancer.

Li Y et al.

Cancer Research, 2020

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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."