Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.A126G
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PTEN

NM_000314.8:p.A126G

Associated Papers

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S3

Molecular dynamic simulation and functional analysis of pathogenic PTEN mutations in glioblastoma.

Cetintas VB et al.

Journal of Biomolecular Structure & Dynamics, 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

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

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

IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Barresi V et al.

Acta Neuropathologica Communications, 2021

34952640 (PubMed )
Supplement: 40478_2021_1304_MOESM3_ESM.xlsx › Supplementary_Table_2

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Zhang Y et al.

Cell Reports, 2021

34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels

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

Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.

Bertucci F et al.

Genome Medicine, 2021

34006291 (PubMed )
Supplement: 13073_2021_897_MOESM3_ESM.xlsx › Table_S2

Mutational drivers of cancer cell migration and invasion.

Novikov NM et al.

British Journal of Cancer, 2021

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

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

Post KL et al.

Nature Communications, 2020

A126 in the active site and TI167/168 in the TI loop are essential determinants of the substrate specificity of PTEN.

Leitner MG et al.

Cellular and Molecular Life Sciences : Cmls, 2018

PTEN proteoforms in biology and disease.

Malaney P et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Neomorphic mutations create therapeutic challenges in cancer.

Takiar V et al.

Oncogene, 2017

Phosphatase and Tensin Homolog Is a Growth Repressor of Both Rhizoid and Gametophore Development in the Moss Physcomitrella patens.

Saavedra L et al.

Plant Physiology, 2015

Discovery and functional characterization of a neomorphic PTEN mutation.

Costa HA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

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

Rodríguez-Escudero I et al.

Human Molecular Genetics, 2011

Molecular profiling-based decision for targeted therapies in IDH wild-type glioblastoma.

Kessler T et al.

Neuro-oncology Advances, 0

32642725 (PubMed )
Supplement: vdz060_suppl_supplementary-table-s3.xlsx › Sheet1
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