Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K13E
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PTEN

NM_000314.8:p.K13E

Associated Papers

Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.

Tibarewal P et al.

Disease Models & Mechanisms, 2026

41215730 (PubMed )
Supplement: dmm-19-052527-TableS1.xlsx › Table_S1

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

41309586 (PubMed )
Supplement: 41467_2025_65654_MOESM3_ESM.xlsx › Supplementary_Data_4

Pilomatrix-like High-grade Endometrial Carcinoma: An Underdiagnosed Entity With Aggressive Clinicopathologic Features.

Zhou F et al.

The American Journal of Surgical Pathology, 2025

Genetically encoded biosensor for fluorescence lifetime imaging of PTEN dynamics in the intact brain.

Kagan T et al.

Nature Methods, 2025

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

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

Margot H et al.

Journal of Medical Genetics, 2024

Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.

Basyuni S et al.

Nature Communications, 2024

39231944 (PubMed )
Supplement: 41467_2024_51577_MOESM13_ESM.xlsx › Oxford_cohort

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

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

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Nguyen Hoang VA et al.

Molecular Oncology, 2023

36495126 (PubMed )
Supplement: MOL2-17-598-s002.xlsx › SupTable_S5_Variants_in_FFPE

Nuclear PTEN's Functions in Suppressing Tumorigenesis: Implications for Rare Cancers.

Langdon CG

Biomolecules, 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

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

Mechanism of activation and the rewired network: New drug design concepts.

Nussinov R et al.

Medicinal Research Reviews, 2022

Aagab acts as a novel regulator of NEDD4-1-mediated Pten nuclear translocation to promote neurological recovery following hypoxic-ischemic brain damage.

Dai C et al.

Cell Death and Differentiation, 2021

The mechanism of full activation of tumor suppressor PTEN at the phosphoinositide-enriched membrane.

Jang H et al.

Iscience, 2021

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

Phosphorylation and Driver Mutations in PI3Kα and PTEN Autoinhibition.

Nussinov R et al.

Molecular Cancer Research : Mcr, 2021

Comprehensive molecular analysis of genomic profiles and PD-L1 expression in lung adenocarcinoma with a high-grade fetal adenocarcinoma component.

Suzuki M et al.

Translational Lung Cancer Research, 2021

33889510 (PubMed )
Supplement: tlcr-10-03-1292-supplementary.pdf

Invasive apocrine carcinoma of the breast: clinicopathologic features and comprehensive genomic profiling of 18 pure triple-negative apocrine carcinomas.

Sun X et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.

Wong CW et al.

The Febs Journal, 2020

Posttranslational Regulation and Conformational Plasticity of PTEN.

Kotelevets L et al.

Cold Spring Harbor Perspectives in Medicine, 2020

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

Structural Mechanisms of PTEN Regulation.

Masson GR et al.

Cold Spring Harbor Perspectives in Medicine, 2020

Role of Ubiquitination in PTEN Cellular Homeostasis and Its Implications in GB Drug Resistance.

Xia Q et al.

Frontiers in Oncology, 2020

Expression of Human PTEN-L in a Yeast Heterologous Model Unveils Specific N-Terminal Motifs Controlling PTEN-L Subcellular Localization and Function.

Fernández-Acero T et al.

Cells, 2019

Multifaceted Regulation of PTEN Subcellular Distributions and Biological Functions.

Liu T et al.

Cancers, 2019

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.

Wong CW et al.

Autism Research : Official Journal of the International Society for Autism Research, 2018

A pathogenic role for germline PTEN variants which accumulate into the nucleus.

Mingo J et al.

European Journal of Human Genetics : Ejhg, 2018

The nuclear transport receptor Importin-11 is a tumor suppressor that maintains PTEN protein.

Chen M et al.

The Journal of Cell Biology, 2017

Comprehensive profiling of metaplastic breast carcinomas reveals frequent overexpression of programmed death-ligand 1.

Joneja U et al.

Journal of Clinical Pathology, 2017

27531819 (PubMed )
Supplement: jclinpath-2016-203874supp.pdf

DJ-1 maintains energy and glucose homeostasis by regulating the function of brown adipose tissue.

Wu R et al.

Cell Discovery, 2017

28224045 (PubMed )
Supplement: celldisc201654-s1.pdf

PTEN regulates EG5 to control spindle architecture and chromosome congression during mitosis.

He J et al.

Nature Communications, 2016

Fine-Tuning of Pten Localization and Phosphatase Activity Is Essential for Zebrafish Angiogenesis.

Stumpf M et al.

Plos One, 2016

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

Phospholipid-binding sites of phosphatase and tensin homolog (PTEN): exploring the mechanism of phosphatidylinositol 4,5-bisphosphate activation.

Wei Y et al.

The Journal of Biological Chemistry, 2015

Mutational profiling of kinases in glioblastoma.

Bleeker FE et al.

Bmc Cancer, 2014

A biosensor to monitor dynamic regulation and function of tumour suppressor PTEN in living cells.

Lima-Fernandes E et al.

Nature Communications, 2014

Rab5 and Ndfip1 are involved in Pten ubiquitination and nuclear trafficking.

Li Y et al.

Traffic (copenhagen, Denmark), 2014

Cdh1, a substrate-recruiting component of anaphase-promoting complex/cyclosome (APC/C) ubiquitin E3 ligase, specifically interacts with phosphatase and tensin homolog (PTEN) and promotes its removal from chromatin.

Choi BH et al.

The Journal of Biological Chemistry, 2014

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

Kechagioglou P et al.

Anticancer Research, 2014

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

Bubien V et al.

Journal of Medical Genetics, 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
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