Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R1
Variant:p.R348*
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PIK3R1

NM_181523.3:p.R348*

Associated Papers

Understanding the conformational dynamics of PI3Kα due to helical domain mutations: insights from Markov state model analysis.

Jani V et al.

Molecular Diversity, 2025

An exploratory analysis of driver gene alterations and their potential prognostic relevance in endometrial cancer with POLE exonuclease domain mutations.

Wei TY et al.

Gynecologic Oncology, 2025

PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.

Janku F et al.

Jco Precision Oncology, 2025

40865033 (PubMed )
Supplement: protocol1_PO-25-00265.pdf

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

Takamatsu R et al.

Archives of Pathology & Laboratory Medicine, 2025

Corrigendum to "POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases": [Modern Pathology 38 (2025) 100676].

Hammer PM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Molecular Biomarkers of Glioma.

Rajakaruna P et al.

Biomedicines, 2025

Cancer-Associated PIK3R1 Genetic Aberrations and Precision Medicine.

Xie H et al.

International Journal of Medical Sciences, 2025

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Arginines of the CGN codon family are Achilles' heels of cancer genes.

Trexler M et al.

Scientific Reports, 2024

One-pot DTECT enables rapid and efficient capture of genetic signatures for precision genome editing and clinical diagnostics.

Baudrier L et al.

Cell Reports Methods, 2024

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel

Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective Analysis from an Institutional Molecular Tumor Board.

Tarawneh TS et al.

Cancers, 2022

36139590 (PubMed )
Supplement: cancers-14-04430-s001.zip › Tarawneh_et_al_Supplementary_Table_S5.xlsx › Alterations

A novel mutant PIK3R1EY451delinsD breast cancer patient resistant to HER2-targeted therapy treated with everolimus: a case report.

Wang K et al.

Molecular Biology Reports, 2022

Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.

Hong JH et al.

Journal of Gynecologic Oncology, 2022

35128859 (PubMed )
Supplement: jgo-33-e29-s002.xls › jgo-33-e29-s002

Targeting Oncogenic Pathways in the Era of Personalized Oncology: A Systemic Analysis Reveals Highly Mutated Signaling Pathways in Cancer Patients and Potential Therapeutic Targets.

Karagiannakos A et al.

Cancers, 2022

Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Bonazzi VF et al.

Genome Medicine, 2022

35012638 (PubMed )
Supplement: 13073_2021_990_MOESM2_ESM.xlsx › Supp_Table_4

Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.

Li P et al.

Frontiers in Oncology, 2022

36439454 (PubMed )
Supplement: DataSheet_2.pdf

Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Nguyen HT et al.

Frontiers in Oncology, 2022

36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_FFPE

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

Robinson PS et al.

Nature Genetics, 2021

34594041 (PubMed )
Supplement: 41588_2021_930_MOESM3_ESM.xlsx › Supplementary_Table_3

Targeted Sequencing Revealed Distinct Mutational Profiles of Ocular and Extraocular Sebaceous Carcinomas.

Na HY et al.

Cancers, 2021

34638295 (PubMed )
Supplement: cancers-13-04810-s001.zip › cancers-1366838-supplementary.xlsx › Table_S4.

Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

He C et al.

Nature Communications, 2021

34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2b

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

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › All_Calls

Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.

Akahane T et al.

Bmc Medical Genomics, 2020

32652986 (PubMed )
Supplement: 12920_2020_753_MOESM2_ESM.xlsx › Sheet1

Detection of Marker-Free Precision Genome Editing and Genetic Variation through the Capture of Genomic Signatures.

Billon P et al.

Cell Reports, 2020

32160537 (PubMed )
Supplement: NIHMS1574790-supplement-2.xlsx › Oligos__sgRNAs_cloning_

Differences in the molecular profile of endometrial cancers from British White and British South Asian women.

Polymeros K et al.

Plos One, 2020

32520976 (PubMed )
Supplement: pone.0233900.s001.xlsx › Mapped_mutations

Somatic loss of PIK3R1 may sensitize breast cancer to inhibitors of the MAPK pathway.

Turturro SB et al.

Breast Cancer Research and Treatment, 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Genomic alterations in breast cancer: level of evidence for actionability according to ESMO Scale for Clinical Actionability of molecular Targets (ESCAT).

Condorelli R et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2019

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s020.xlsx › Figure.2.Drivers.Edited

The effects of mutational processes and selection on driver mutations across cancer types.

Temko D et al.

Nature Communications, 2018

29748584 (PubMed )
Supplement: 41467_2018_4208_MOESM4_ESM.xlsx › Sheet1

Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients.

Chen L et al.

Nature Communications, 2018

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Targeted Next-Generation Sequencing Identifies Actionable Targets in Estrogen Receptor Positive and Estrogen Receptor Negative Endometriod Endometrial Cancer.

Suhaimi SS et al.

Frontiers in Pharmacology, 2018

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

Neomorphic mutations create therapeutic challenges in cancer.

Takiar V et al.

Oncogene, 2017

Functional characterization of somatic mutations in cancer using network-based inference of protein activity.

Alvarez MJ et al.

Nature Genetics, 2016

27322546 (PubMed )
Supplement: NIHMS789775-supplement-1.pdf
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