Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.Y68N
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PTEN

NM_000314.8:p.Y68N

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

Dominant Negative PTEN Alterations in Endometrial Carcinoma Are Associated With Retained Immunohistochemical PTEN Expression.

Keyhanian K et al.

The American Journal of Surgical Pathology, 2025

Machine Learning and Structural Dynamics-Based Approach to Reveal Molecular Mechanism of PTEN Missense Mutations Shared by Cancer and Autism Spectrum Disorder.

Yang M et al.

Journal of Chemical Information and Modeling, 2025

MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.

Kaczorowski M et al.

The Journal of Pathology. Clinical Research, 2025

40105034 (PubMed )
Supplement: CJP2-11-e70025-s003.xlsx › Table_S2

Decoding Mechanisms of PTEN Missense Mutations in Cancer and Autism Spectrum Disorder using Interpretable Machine Learning Approaches.

Yang M et al.

Biorxiv : the Preprint Server for Biology, 2025

Classification of PTEN germline non-truncating variants: a new approach to interpretation.

Margot H et al.

Journal of Medical Genetics, 2024

Thyroid nodules with DICER1 mutation or PTEN alteration: A comparative cytologic, clinical, and molecular study of 117 FNA cases.

Jitpasutham T et al.

Cancer Cytopathology, 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

Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.

Serebriiskii IG et al.

Nature Communications, 2022

35338148 (PubMed )
Supplement: 41467_2022_29227_MOESM6_ESM.xlsx › Supplemenraty_Data_3

Investigation of discrepant mismatch repair immunohistochemistry and microsatellite instability polymerase chain reaction test results for gynecologic cancers using next-generation sequencing.

Smithgall MC et al.

Human Pathology, 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.s009.xlsx › Batch_5

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Khoruddin NA et al.

Scientific Reports, 2021

34373545 (PubMed )
Supplement: 41598_2021_95618_MOESM1_ESM.xlsx › Training_Dataset

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1

Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

Reijnen C et al.

International Journal of Cancer, 2020

32022266 (PubMed )
Supplement: IJC-147-478-s001.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

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Post KL et al.

Nature Communications, 2020

Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Niyomnaitham S et al.

Peerj, 2019

30828495 (PubMed )
Supplement: peerj-07-6501-s001.xlsx › PTEN

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › TAM_nonsilent

Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients.

Kaur RP et al.

Medical Oncology (northwood, London, England), 2018

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S et al.

Nature, 2016

27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels

Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Xiu J et al.

Oncotarget, 2016

26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf

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

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Macrocephaly as a clinical indicator of genetic subtypes in autism.

Klein S et al.

Autism Research : Official Journal of the International Society for Autism Research, 2013

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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."