Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R1
Variant:p.D464_E468del0
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PIK3R1

NM_181523.3:p.D464_E468del0

Associated Papers

Molecular Characterization of Vascular Anomalies Tissues Guides Clinical Diagnosis.

Henslee SB et al.

Lymphatic Research and Biology, 2026

Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.

Kader T et al.

The Journal of Pathology, 2026

41165701 (PubMed )
Supplement: PATH-268-1-s001.zip › path6461-sup-0001-SuppMatMethFiguresS1-S18TablesS1-S9 › path6461-sup-0003-TableS4.xlsx › Variants_recurrence_cases

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism.

Leon-Quintero FZ et al.

Clinical Genetics, 2025

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

Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

He CY et al.

Clinical and Translational Medicine, 2020

32508039 (PubMed )
Supplement: CTM2-10-353-s003.xlsx › Table_S3

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S et al.

Nature, 2016

27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels

PIK3R1 (p85α) is somatically mutated at high frequency in primary endometrial cancer.

Urick ME et al.

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."