Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.T167A
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PTEN

NM_000314.8:p.T167A

Associated Papers

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Genetic associations of miRNA variants (miR-10a, miR-30c, miR-181a, miR-499b) with primary ovarian insufficiency in Korean women.

An HJ et al.

Maturitas, 2025

Pleiotropic tumor suppressive functions of PTEN missense mutations during gliomagenesis.

Jun HJ et al.

Iscience, 2024

39660053 (PubMed )
Supplement: mmc1.pdf

Multiple Endocrine Neoplasia Type 1 Regulates TGFβ-Mediated Suppression of Tumor Formation and Metastasis in Melanoma.

Boudreault J et al.

Cells, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

A multiparameter liquid biopsy approach allows to track melanoma dynamics and identify early treatment resistance.

Scaini MC et al.

Npj Precision Oncology, 2024

38548846 (PubMed )
Supplement: 41698_2024_567_MOESM1_ESM.pdf

Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.

Yavuz BR et al.

Npj Genomic Medicine, 2023

Classification of PTEN missense VUS through exascale simulations.

Sinha S et al.

Briefings in Bioinformatics, 2023

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

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.s010.xlsx › Annotation_of_PTEN_variants

BRN2 is a non-canonical melanoma tumor-suppressor.

Hamm M et al.

Nature Communications, 2021

34140478 (PubMed )
Supplement: 41467_2021_23973_MOESM1_ESM.pdf

Distinguishing between PTEN clinical phenotypes through mutation analysis.

Portelli S et al.

Computational and Structural Biotechnology Journal, 2021

34141133 (PubMed )
Supplement: mmc1.docx

Horizontal Combination of MEK and PI3K/mTOR Inhibition in BRAF Mutant Tumor Cells with or without Concomitant PI3K Pathway Mutations.

Rittler D et al.

International Journal of Molecular Sciences, 2020

Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Hong TH et al.

Journal for Immunotherapy of Cancer, 2020

33077514 (PubMed )
Supplement: jitc-2020-001199supp002.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

[Impact of prenylation inhibition on RAS mutant tumors in preclinical studies].

Baranyi M et al.

Magyar Onkologia, 2019

Predicting Oncogenic Missense Mutations.

Lei X et al.

... Ieee-embs International Conference on Biomedical and Health Informatics. Ieee-embs International Conference on Biomedical and Health Informatics, 2019

Associations of miR‑146aC>G, miR‑149C>T, miR‑196a2C>T and miR‑499A>G polymorphisms with brain tumors.

Lim J et al.

Oncology Reports, 2018

cAMP-independent non-pigmentary actions of variant melanocortin 1 receptor: AKT-mediated activation of protective responses to oxidative DNA damage.

Castejón-Griñán M et al.

Oncogene, 2018

EGFR feedback-inhibition by Ran-binding protein 6 is disrupted in cancer.

Oldrini B et al.

Nature Communications, 2017

29229958 (PubMed )
Supplement: 41467_2017_2185_MOESM8_ESM.xlsx › Table_S7

High-Throughput and Sensitive Quantification of Circulating Tumor DNA by Microfluidic-Based Multiplex PCR and Next-Generation Sequencing.

Guan Y et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Cell Dispersal Influences Tumor Heterogeneity and Introduces a Bias in NGS Data Interpretation.

Pongor L et al.

Scientific Reports, 2017

28779157 (PubMed )
Supplement: 41598_2017_7487_MOESM5_ESM.xls › A375_MEWO_calibration

Shifting the Balance of Activating and Inhibitory Natural Killer Receptor Ligands on BRAFV600E Melanoma Lines with Vemurafenib.

Frazao A et al.

Cancer Immunology Research, 2017

Individualized strategies to target specific mechanisms of disease in malignant melanoma patients displaying unique mutational signatures.

Curiel-Olmo S et al.

Oncotarget, 2015

26327537 (PubMed )
Supplement: oncotarget-06-25452-s003.xlsx › Hoja1

Using CellMiner 1.6 for Systems Pharmacology and Genomic Analysis of the NCI-60.

Reinhold WC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

SNPase-ARMS qPCR: Ultrasensitive Mutation-Based Detection of Cell-Free Tumor DNA in Melanoma Patients.

Stadler J et al.

Plos One, 2015

The antiproliferative response of indole-3-carbinol in human melanoma cells is triggered by an interaction with NEDD4-1 and disruption of wild-type PTEN degradation.

Aronchik I et al.

Molecular Cancer Research : Mcr, 2014

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Reinhold WC et al.

Plos One, 2014

25032700 (PubMed )
Supplement: pone.0101670.s001.xlsx › Supplementary_Table_1

Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours.

Wong SQ et al.

Scientific Reports, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Genomic characterisation of acral melanoma cell lines.

Furney SJ et al.

Pigment Cell & Melanoma Research, 2012

Genetic alterations of PTEN in human melanoma.

Aguissa-Touré AH et al.

Cellular and Molecular Life Sciences : Cmls, 2012

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

Rodríguez-Escudero I et al.

Human Molecular Genetics, 2011

Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density single-nucleotide polymorphism arrays.

Stark M et al.

Cancer Research, 2007

Osteopontin is a downstream effector of the PI3-kinase pathway in melanomas that is inversely correlated with functional PTEN.

Packer L et al.

Carcinogenesis, 2006

PTEN signaling pathways in melanoma.

Wu H et al.

Oncogene, 2003

Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.

Lee JO et al.

Cell, 1999

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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."