Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.E285*
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PTEN

NM_000314.8:p.E285*

Associated Papers

Comprehensive Genomic Profiling of Small-Cell Lung Cancer Reveals Frequent Potentially Targetable Alterations.

Schmalz D et al.

International Journal of Molecular Sciences, 2025

41373665 (PubMed )
Supplement: ijms-26-11512-s001.zip › Supplementary_Table_1_revised.xlsx › SNV_indels

Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.

MacFarland SP et al.

American Journal of Medical Genetics. Part A, 2024

Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants.

Torices L et al.

Plos One, 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

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_4

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_

Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D.

Zheng B et al.

Frontiers in Molecular Biosciences, 2021

34336928 (PubMed )
Supplement: Table2.xlsx › Sheet1

Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.

Yotsumoto Y et al.

Molecular and Clinical Oncology, 2020

Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors.

Ramkissoon SH et al.

Neuro-oncology, 2017

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Vanderver A et al.

American Journal of Medical Genetics. Part A, 2014

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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."