Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Y178*
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PTEN

NM_000314.8:p.Y178*

Associated Papers

Mapping cryptic phosphorylation sites in the human proteome.

Gasparotto D et al.

The Embo Journal, 2025

41044218 (PubMed )
Supplement: 44318_2025_567_MOESM5_ESM.xlsx › Table

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

Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Georgoulias G et al.

Frontiers in Immunology, 2022

36389735 (PubMed )
Supplement: Table_7.xlsx › PTEN

Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients.

Hilke FJ et al.

Cancers, 2020

32825510 (PubMed )
Supplement: cancers-12-02359-s001.zip › cancers-898298-supplementary › SupplementTable_1-14_20200710.xlsx › Table_S8

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Schepici G et al.

Brain Sciences, 2019

PTEN/PTENP1: 'Regulating the regulator of RTK-dependent PI3K/Akt signalling', new targets for cancer therapy.

Haddadi N et al.

Molecular Cancer, 2018

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

Chen HH et al.

The Journal of Allergy and Clinical Immunology, 2017

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

Yakubov E et al.

Oncoscience, 2016

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

Clonal status of actionable driver events and the timing of mutational processes in cancer evolution.

McGranahan N et al.

Science Translational Medicine, 2015

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.

Heindl M et al.

Gastroenterology, 2012

The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Larson Gedman A et al.

Leukemia, 2009

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.

Lintas C et al.

Journal of Medical Genetics, 2009

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

Herman GE et al.

American Journal of Medical Genetics. Part A, 2007

PTEN mutation in a family with Cowden syndrome and autism.

Goffin A et al.

American Journal of Medical Genetics, 2001

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

Longy M et al.

Journal of Medical Genetics, 1998

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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."