Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.R189*
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PTEN

NM_000314.8:p.R189*

Associated Papers

Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.

Li Q et al.

Pediatric Neurology, 2025

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3B_EC_data

Synthetic lethal approaches to target cancers with loss of PTEN function.

Ertay A et al.

Genes & Diseases, 2023

Emerging role of PTEN loss in evasion of the immune response to tumours.

Vidotto T et al.

British Journal of Cancer, 2020

Claudin-low-like mouse mammary tumors show distinct transcriptomic patterns uncoupled from genomic drivers.

Fougner C et al.

Breast Cancer Research : Bcr, 2019

31366361 (PubMed )
Supplement: 13058_2019_1170_MOESM5_ESM.xlsx › MPADMBA_muts_in_COSMIC_genes

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

Yakubov E et al.

Oncoscience, 2016

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

PTEN C-terminal deletion causes genomic instability and tumor development.

Sun Z et al.

Cell Reports, 2014

Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

He X et al.

Human Molecular Genetics, 2011

Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.

Orloff MS et al.

Oncogene, 2008

The nuclear affairs of PTEN.

Planchon SM et al.

Journal of Cell Science, 2008

Essential role for nuclear PTEN in maintaining chromosomal integrity.

Shen WH et al.

Cell, 2007

Germline PTEN mutations are rare and highly penetrant.

Rustad CF et al.

Hereditary Cancer in Clinical Practice, 2006

Genetic alterations and aberrant expression of genes related to the phosphatidyl-inositol-3'-kinase/protein kinase B (Akt) signal transduction pathway in glioblastomas.

Knobbe CB et al.

Brain Pathology (zurich, Switzerland), 2003

PTEN: one gene, many syndromes.

Eng C

Human Mutation, 2003

Comprehensive analysis of genomic alterations in gliosarcoma and its two tissue components.

Actor B et al.

Genes, Chromosomes & Cancer, 2002

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

Lynch ED et al.

American Journal of Human 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."