Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.T131N
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PTEN

NM_000314.8:p.T131N

Associated Papers

Allosteric modulation of NF1 GAP: Differential distributions of catalytically competent populations in loss-of-function and gain-of-function mutants.

Xu L et al.

Protein Science : a Publication of the Protein Society, 2025

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

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

Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.

Thirunavukarasu D et al.

Genome Biology, 2021

34482832 (PubMed )
Supplement: 13059_2021_2449_MOESM2_ESM.xlsx › HCC

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.s010.xlsx › Annotation_of_PTEN_variants

Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Sun H et al.

Nature Communications, 2021

34429404 (PubMed )
Supplement: 41467_2021_25177_MOESM8_ESM.xlsx › Sheet1

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

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_S6_decrease_aggreg_analysis.xlsx › Intrinsic_Disorder_all

Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Saadeh FS et al.

Plos One, 2020

33237934 (PubMed )
Supplement: pone.0242793.s003.xlsx › Sheet1

Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Li H et al.

Frontiers in Oncology, 2020

33747896 (PubMed )
Supplement: Table_1.xlsx › Table_S2

Targeted next-generation sequencing of endometrial cancer and matched circulating tumor DNA: identification of plasma-based, tumor-associated mutations in early stage patients.

Bolivar AM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Loss of PTEN Is Associated with Resistance to Anti-PD-1 Checkpoint Blockade Therapy in Metastatic Uterine Leiomyosarcoma.

George S et al.

Immunity, 2017

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

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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."