Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.W111C
Back to variants list

PTEN

NM_000314.8:p.W111C

Associated Papers

Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives.

Checri R et al.

Revue Neurologique, 2025

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.

D'Gama AM et al.

Brain Communications, 2025

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › PTEN

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.

D'Gama AM et al.

Medrxiv : the Preprint Server for Health 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

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN

Sequencing and curation strategies for identifying candidate glioblastoma treatments.

Frank MO et al.

Bmc Medical Genomics, 2019

Tumor suppressor PTEN in breast cancer: heterozygosity, mutations and protein expression.

Kechagioglou P et al.

Anticancer Research, 2014

Synthetic lethal targeting of PTEN mutant cells with PARP inhibitors.

Mendes-Pereira AM et al.

Embo Molecular Medicine, 2009

20049735 (PubMed )
Supplement: emmm0001-0315-SD1.pdf
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."