Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.R335L
Back to variants list

PTEN

NM_000314.8:p.R335L

Associated Papers

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

Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Hong TH et al.

Journal for Immunotherapy of Cancer, 2020

33077514 (PubMed )
Supplement: jitc-2020-001199supp002.pdf

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

Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.

Yakubov E et al.

Oncoscience, 2016

27489861 (PubMed )
Supplement: oncoscience-03-149-s001.pdf

Ovarian and endometrial endometrioid adenocarcinomas have distinct profiles of microsatellite instability, PTEN expression, and ARID1A expression.

Huang HN et al.

Histopathology, 2015

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Spinelli L et al.

Journal of Medical Genetics, 2015

25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf

Interactions of phosphatase and tensin homologue (PTEN) proteins with phosphatidylinositol phosphates: insights from molecular dynamics simulations of PTEN and voltage sensitive phosphatase.

Kalli AC et al.

Biochemistry, 2014

Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders.

Kreis P et al.

Frontiers in Molecular Neuroscience, 2014

The determinants of head and neck cancer: Unmasking the PI3K pathway mutations.

Giudice FS et al.

Journal of Carcinogenesis & Mutagenesis, 2013

Primary lung adenocarcinoma occurring in a PTEN related syndrome (Cowden's disease): routine EGFR sequencing also highlights two rare somatic mutations S768I and V769L.

Boespflug A et al.

Lung Cancer (amsterdam, Netherlands), 2013

Defining the membrane-associated state of the PTEN tumor suppressor protein.

Lumb CN et al.

Biophysical Journal, 2013

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

Rodríguez-Escudero I et al.

Human Molecular Genetics, 2011

A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.

Tate G et al.

Cancer Genetics and Cytogenetics, 2008

Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome.

Sawada T et al.

American Journal of Medical Genetics. Part A, 2004

PTEN: one gene, many syndromes.

Eng C

Human Mutation, 2003

Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

Sawada T et al.

Japanese Journal of Cancer Research : Gann, 2000

[Cowden disease].

Sawada T et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."