Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.H123Y
Back to variants list

PTEN

NM_000314.8:p.H123Y

Associated Papers

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.

Ahmad RM et al.

Briefings in Bioinformatics, 2025

41263939 (PubMed )
Supplement: supplementary_materials_bbaf611_1_.zip › Supplementary_materials_bbaf611 › Supplementary_Table_S8.xlsx › Sheet1

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S4

Genetically encoded biosensor for fluorescence lifetime imaging of PTEN dynamics in the intact brain.

Kagan T et al.

Nature Methods, 2025

39979596 (PubMed )
Supplement: 41592_2025_2610_MOESM14_ESM.xlsx › Ext_Fig_2F

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

The Histomorphology to Molecular Transition: Exploring the Genomic Landscape of Poorly Differentiated Epithelial Endometrial Cancers.

Molefi T et al.

Cells, 2025

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › PTEN

Classification of PTEN missense VUS through exascale simulations.

Sinha S et al.

Briefings in Bioinformatics, 2023

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN

Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel.

Evans DGR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Serebriiskii IG et al.

Nature Communications, 2022

35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3

SAMHD1 in cancer: curse or cure?

Schott K et al.

Journal of Molecular Medicine (berlin, Germany), 2022

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

Williams G et al.

Plos One, 2022

35324914 (PubMed )
Supplement: pone.0245817.s005.pdf

A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.

Ganguly P et al.

Plos Genetics, 2021

34492006 (PubMed )
Supplement: pgen.1009774.s009.xlsx › Batch_1

A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.

Pappula AL et al.

Cancers, 2021

34503108 (PubMed )
Supplement: cancers-13-04299-s001.zip › Supplemental_Tables_final.xlsx › Table_S11

Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Romero-Cordoba SL et al.

Nature Communications, 2021

33854067 (PubMed )
Supplement: 41467_2021_22478_MOESM9_ESM.xlsx › Driver_mutation_in_HM

Mutation-specific non-canonical pathway of PTEN as a distinct therapeutic target for glioblastoma.

Choi SW et al.

Cell Death & Disease, 2021

33828082 (PubMed )
Supplement: 41419_2021_3657_MOESM15_ESM.pdf

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS1

Approaches to Investigating the Protein Interactome of PTEN.

Smith SL et al.

Journal of Proteome Research, 2021

Role of next generation sequencing-based liquid biopsy in advanced non-small cell lung cancer patients treated with immune checkpoint inhibitors: impact of STK11, KRAS and TP53 mutations and co-mutations on outcome.

Pavan A et al.

Translational Lung Cancer Research, 2021

33569305 (PubMed )
Supplement: tlcr-10-01-202-supplementary.pdf

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

Identification of the Prognostic Signatures of Glioma With Different PTEN Status.

Zhang P et al.

Frontiers in Oncology, 2021

34336645 (PubMed )
Supplement: DataSheet_2.zip › Supplementary_Table_2.xlsx › TCGA_

RAD51-Mediated DNA Homologous Recombination Is Independent of PTEN Mutational Status.

Sinha A et al.

Cancers, 2020

Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Hong TH et al.

Journal for Immunotherapy of Cancer, 2020

33077514 (PubMed )
Supplement: jitc-2020-001199supp002.pdf

A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants.

Chao JT et al.

Cancer Research, 2020

Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.

Palumbo E et al.

Journal of Biomolecular Structure & Dynamics, 2020

31232187 (PubMed )
Supplement: supplement_1.zip › Supplement_S5_increase_aggreg_analysis.xlsx › Hydrophob._miss_trunc_ins_dels

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Post KL et al.

Nature Communications, 2020

1–50 of 83 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."