Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.M134L
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PTEN

NM_000314.8:p.M134L

Associated Papers

A comprehensive database for identifying and interpreting ctDNA driver genes and variants in cancer.

Wang Y et al.

Scientific Data, 2025

40670358 (PubMed )
Supplement: 41597_2025_5550_MOESM1_ESM.xls › Table_S5

Classification of PTEN missense VUS through exascale simulations.

Sinha S et al.

Briefings in Bioinformatics, 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

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_S5_increase_aggreg_analysis.xlsx › Hydrophob._miss_trunc_ins_dels

The Impact of Genetic Variants on PTEN Molecular Functions and Cellular Phenotypes.

Hasle N et al.

Cold Spring Harbor Perspectives in Medicine, 2019

PIK3CA Mutations Contribute to Acquired Cetuximab Resistance in Patients with Metastatic Colorectal Cancer.

Xu JM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.

George Priya Doss C et al.

Cell Biochemistry and Biophysics, 2013

Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.

Busa T et al.

Gene, 2013

Lamin A/C protein is overexpressed in tissue-invading prostate cancer and promotes prostate cancer cell growth, migration and invasion through the PI3K/AKT/PTEN pathway.

Kong L et al.

Carcinogenesis, 2012

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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."