Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L42R
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PTEN

NM_000314.8:p.L42R

Associated Papers

Pleiotropic tumor suppressive functions of PTEN missense mutations during gliomagenesis.

Jun HJ et al.

Iscience, 2024

STING activation increases the efficiency of temozolomide in PTEN harbouring glioblastoma cells.

Yildirim Z et al.

Turkish Journal of Medical Sciences, 2024

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.

Serebriiskii IG et al.

Npj Genomic Medicine, 2023

38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6

Molecular dynamic simulation and functional analysis of pathogenic PTEN mutations in glioblastoma.

Cetintas VB et al.

Journal of Biomolecular Structure & Dynamics, 2023

Mechanism of activation and the rewired network: New drug design concepts.

Nussinov R et al.

Medicinal Research Reviews, 2022

Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.

Matreyek KA et al.

Genome Medicine, 2021

A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.

Pappula AL et al.

Cancers, 2021

34503108 (PubMed )
Supplement: cancers-13-04299-s001.zip › Supplemental_Tables_final.xlsx › Table_S11

Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.

Moukarzel LA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

Phosphorylation and Driver Mutations in PI3Kα and PTEN Autoinhibition.

Nussinov R et al.

Molecular Cancer Research : Mcr, 2021

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

Structural Mechanisms of PTEN Regulation.

Masson GR et al.

Cold Spring Harbor Perspectives in Medicine, 2020

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

Hasle N et al.

Cold Spring Harbor Perspectives in Medicine, 2019

65 YEARS OF THE DOUBLE HELIX: The advancements of gene editing and potential application to hereditary cancer.

Tan ZY et al.

Endocrine-related Cancer, 2018

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

PTEN status is a crucial determinant of the functional outcome of combined MEK and mTOR inhibition in cancer.

Milella M et al.

Scientific Reports, 2017

Correction of PTEN mutations in glioblastoma cell lines via AAV-mediated gene editing.

Hill VK et al.

Plos One, 2017

Opening the conformation is a master switch for the dual localization and phosphatase activity of PTEN.

Nguyen HN et al.

Scientific Reports, 2015

A new class of cancer-associated PTEN mutations defined by membrane translocation defects.

Nguyen HN et al.

Oncogene, 2015

Engineering PTEN function: membrane association and activity.

Yang JM et al.

Methods (san Diego, Calif.), 2015

Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Brannon AR et al.

Genome Biology, 2014

25164765 (PubMed )
Supplement: 13059_2014_454_MOESM1_ESM.xlsx › Sheet1

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

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S1

PTEN protein phosphatase activity correlates with control of gene expression and invasion, a tumor-suppressing phenotype, but not with AKT activity.

Tibarewal P et al.

Science Signaling, 2012

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

Nonredundant functions for Akt isoforms in astrocyte growth and gliomagenesis in an orthotopic transplantation model.

Endersby R et al.

Cancer Research, 2011

PTEN mutations in malignant gliomas and their relation with meningeal gliomatosis.

Izumoto S et al.

Journal of Neuro-oncology, 2001

MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines.

Teng DH et al.

Cancer Research, 1997

Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers.

Steck PA et al.

Nature Genetics, 1997

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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."