Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.C124F
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PTEN

NM_000314.8:p.C124F

Associated Papers

Molecular testing raises thyroid nodule fine needle aspiration diagnostic value.

Han D et al.

Endocrine Connections, 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.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_S4_mutants_nochange.xlsx › Mutants_no_change

Development and Analytical Validation of an Expanded Mutation Detection Panel for Next-Generation Sequencing of Thyroid Nodule Aspirates.

Ablordeppey KK et al.

The Journal of Molecular Diagnostics : Jmd, 2020

Concurrent Genetic Alterations Predict the Progression to Target Therapy in EGFR-Mutated Advanced NSCLC.

Kim Y et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2019

EGFR feedback-inhibition by Ran-binding protein 6 is disrupted in cancer.

Oldrini B et al.

Nature Communications, 2017

29229958 (PubMed )
Supplement: 41467_2017_2185_MOESM8_ESM.xlsx › Table_S7

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

A catalog of HLA type, HLA expression, and neo-epitope candidates in human cancer cell lines.

Boegel S et al.

Oncoimmunology, 0

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