Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.M134R
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PTEN

NM_000314.8:p.M134R

Associated Papers

Targeted RNA sequencing of thyroid tumors from individuals with PTEN hamartoma tumor syndrome reveals a unique transcriptome with a predominantly RAS-like expression profile.

Plitt G et al.

Surgery, 2026

Divergent PTEN-p53 interaction upon DNA damage in a human thyroid organoid model with germline PTEN mutations.

Venegas JA et al.

Endocrine-related Cancer, 2025

The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.

Plitt G et al.

Cancer Research, 2024

In Silico Deciphering of the Potential Impact of Variants of Uncertain Significance in Hereditary Colorectal Cancer Syndromes.

Fasano C et al.

Cells, 2024

Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.

Kang SC et al.

Molecular Psychiatry, 2024

Differential cell cycle checkpoint evasion by PTEN germline mutations associated with dichotomous phenotypes of cancer versus autism spectrum disorder.

Hitomi M et al.

Oncogene, 2023

Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.

Fountzilas E et al.

International Journal of Molecular Sciences, 2023

37511593 (PubMed )
Supplement: ijms-24-11834-s001.zip › Supplemental_Table_S3.xlsx › List_of_variants

Comparative Protein Structural Network Analysis Reveals C-Terminal Tail Phosphorylation Structural Communication Fingerprint in PTEN-Associated Mutations in Autism and Cancer.

Smith IN et al.

The Journal of Physical Chemistry. B, 2023

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

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

Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.

Li K et al.

Frontiers in Genetics, 2020

33408741 (PubMed )
Supplement: Table_4.XLSX › ___1

Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.

Smith IN et al.

American Journal of Human Genetics, 2019

Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.

Smith IN et al.

Journal of Biomolecular Structure & Dynamics, 2019

Biophysical simulations and structure-based modeling of residue interaction networks in the tumor suppressor proteins reveal functional role of cancer mutation hotspots in molecular communication.

Verkhivker GM

Biochimica Et Biophysica Acta. General Subjects, 2019

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L et al.

Journal of Medical Genetics, 2015

25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf

Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.

Mester J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012

Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer.

Figer A et al.

Clinical Genetics, 2002

PTEN/MMAC1 mutations in hepatocellular carcinomas.

Yao YJ et al.

Oncogene, 1999

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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."