Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D92A
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PTEN

NM_000314.8:p.D92A

Associated Papers

PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.

Janku F et al.

Jco Precision Oncology, 2025

40865033 (PubMed )
Supplement: protocol1_PO-25-00265.pdf

In Silico Deciphering of the Potential Impact of Variants of Uncertain Significance in Hereditary Colorectal Cancer Syndromes.

Fasano C et al.

Cells, 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

Genetic analysis of DAF-18/PTEN missense mutants for the ability to maintain quiescence of the somatic gonad and germ line in Caenorhabditis elegans dauer larvae.

Wittes J et al.

G3 (bethesda, Md.), 2022

Genetic analysis of daf-18/PTEN missense mutants for starvation resistance and developmental regulation during Caenorhabditis elegans L1 arrest.

Chen J et al.

G3 (bethesda, Md.), 2022

Phase II Study of Taselisib in PIK3CA-Mutated Solid Tumors Other Than Breast and Squamous Lung Cancer: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol I.

Krop IE et al.

Jco Precision Oncology, 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 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

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

Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model.

Li K et al.

Frontiers in Genetics, 2020

33408741 (PubMed )
Supplement: Table_4.XLSX › ___1

PTEN Suppresses Glycolysis by Dephosphorylating and Inhibiting Autophosphorylated PGK1.

Qian X et al.

Molecular Cell, 2019

Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.

Smith IN et al.

American Journal of Human Genetics, 2019

Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.

Smith IN et al.

Journal of Biomolecular Structure & Dynamics, 2019

Differential regulation of the pro-inflammatory biomarker, YKL-40/CHI3L1, by PTEN/Phosphoinositide 3-kinase and JAK2/STAT3 pathways in glioblastoma.

Wang Y et al.

Cancer Letters, 2018

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.

Wong CW et al.

Autism Research : Official Journal of the International Society for Autism Research, 2018

PTEN regulates cilia through Dishevelled.

Shnitsar I et al.

Nature Communications, 2015

C. elegans as a model to study PTEN's regulation and function.

Liu J et al.

Methods (san Diego, Calif.), 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

The PTEN/NRF2 axis promotes human carcinogenesis.

Rojo AI et al.

Antioxidants & Redox Signaling, 2014

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

Bubien V et al.

Journal of Medical Genetics, 2013

Phosphatase and tensin homolog regulates stability and activity of EphB1 receptor.

Rodriguez S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013

New insights in the activity of voltage sensitive phosphatases.

Villalba-Galea CA

Cellular Signalling, 2012

Coupling of Ci-VSP modules requires a combination of structure and electrostatics within the linker.

Hobiger K et al.

Biophysical Journal, 2012

Characterization of a novel PTEN mutation in MDA-MB-453 breast carcinoma cell line.

Singh G et al.

Bmc Cancer, 2011

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

Rodríguez-Escudero I et al.

Human Molecular Genetics, 2011

Combination therapy targeting both tumor-initiating and differentiated cell populations in prostate carcinoma.

Dubrovska A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

Unique biochemical properties of the protein tyrosine phosphatase activity of PTEN-demonstration of different active site structural requirements for phosphopeptide and phospholipid phosphatase activities of PTEN.

Chia JY et al.

Biochimica Et Biophysica Acta, 2010

Electrochemical coupling in the voltage-dependent phosphatase Ci-VSP.

Kohout SC et al.

Nature Chemical Biology, 2010

A role for C. elegans Eph RTK signaling in PTEN regulation.

Brisbin S et al.

Developmental Cell, 2009

PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation.

Xiao Y et al.

Cellular Signalling, 2007

Regulation of PTEN function as a PIP3 gatekeeper through membrane interaction.

Vazquez F et al.

Cell Cycle (georgetown, Tex.), 2006

PTEN signaling pathways in melanoma.

Wu H et al.

Oncogene, 2003

PTEN associates with the vault particles in HeLa cells.

Yu Z et al.

The Journal of Biological Chemistry, 2002

The tumor suppressor gene PTEN can regulate cardiac hypertrophy and survival.

Schwartzbauer G et al.

The Journal of Biological Chemistry, 2001

PTEN interactions with focal adhesion kinase and suppression of the extracellular matrix-dependent phosphatidylinositol 3-kinase/Akt cell survival pathway.

Tamura M et al.

The Journal of Biological Chemistry, 1999

Regulation of G1 progression by the PTEN tumor suppressor protein is linked to inhibition of the phosphatidylinositol 3-kinase/Akt pathway.

Ramaswamy S et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

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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."