Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.N276K
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PTEN

NM_000314.8:p.N276K

Associated Papers

Classification of PTEN germline non-truncating variants: a new approach to interpretation.

Margot H et al.

Journal of Medical Genetics, 2024

The development of a custom RNA-sequencing panel for the identification of predictive and diagnostic biomarkers in glioma.

Shirai Y et al.

Journal of Neuro-oncology, 2024

38363490 (PubMed )
Supplement: 11060_2024_4563_MOESM1_ESM.xlsx › Supplementary_Data_2

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

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

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

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Ricketts CJ et al.

Plos One, 2015

26484545 (PubMed )
Supplement: pone.0140257.s003.xlsx › Sheet1

Molecular profiling-based decision for targeted therapies in IDH wild-type glioblastoma.

Kessler T et al.

Neuro-oncology Advances, 0

32642725 (PubMed )
Supplement: vdz060_suppl_supplementary-table-s3.xlsx › Sheet1
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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."