Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Y240F
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PTEN

NM_000314.8:p.Y240F

Associated Papers

Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.

Tibarewal P et al.

Disease Models & Mechanisms, 2026

Nuclear PTEN's Functions in Suppressing Tumorigenesis: Implications for Rare Cancers.

Langdon CG

Biomolecules, 2023

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

Cetintas VB et al.

Journal of Biomolecular Structure & Dynamics, 2023

PTEN loss drives resistance to the neddylation inhibitor MLN4924 in glioblastoma and can be overcome with TOP2A inhibitors.

Ferdosi SR et al.

Neuro-oncology, 2022

Data-Driven Computational Modeling Identifies Determinants of Glioblastoma Response to SHP2 Inhibition.

Day EK et al.

Cancer Research, 2021

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

Hasle N et al.

Cold Spring Harbor Perspectives in Medicine, 2019

Inhibition of Nuclear PTEN Tyrosine Phosphorylation Enhances Glioma Radiation Sensitivity through Attenuated DNA Repair.

Ma J et al.

Cancer Cell, 2019

Multiplex assessment of protein variant abundance by massively parallel sequencing.

Matreyek KA et al.

Nature Genetics, 2018

29785012 (PubMed )
Supplement: NIHMS956040-supplement-2.doc

Therapeutic targeting of cancers with loss of PTEN function.

Dillon LM et al.

Current Drug Targets, 2014

Rak functions as a tumor suppressor by regulating PTEN protein stability and function.

Yim EK et al.

Cancer Cell, 2009

Motif analysis of the tumor suppressor gene MMAC/PTEN identifies tyrosines critical for tumor suppression and lipid phosphatase activity.

Koul D et al.

Oncogene, 2002

Glioblastoma vulnerability to neddylation inhibition is dependent on PTEN status, and dysregulation of the cell cycle and DNA replication.

Taylor B et al.

Neuro-oncology Advances, 0

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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."