Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.D24V
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PTEN

NM_000314.8:p.D24V

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-TableS8.xlsx › Table_S8

Breast Cancer with a Newly Diagnosed Variant in the PTEN Gene: A Case Report.

Maeda Y et al.

Surgical Case Reports, 2025

Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.

Varachev V et al.

International Journal of Molecular Sciences, 2024

39684714 (PubMed )
Supplement: ijms-25-13004-s001.zip › Table_S1._Examples_of_somatic_genetic_alterations_in_glioma_samples.xlsx › ____1

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

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

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Chemical and structural approaches to investigate PTEN function and regulation.

Viennet T et al.

Methods in Enzymology, 2023

Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

de Bitter TJJ et al.

Npj Precision Oncology, 2022

36335173 (PubMed )
Supplement: 41698_2022_327_MOESM2_ESM.xlsx › Supplementary_Data_3

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

Mouse model and human patient data reveal critical roles for Pten and p53 in suppressing POLE mutant tumor development.

Park VS et al.

Nar Cancer, 2022

35252866 (PubMed )
Supplement: zcac004_supplemental_file.xlsx › Supp_Table_4

The structural basis of PTEN regulation by multi-site phosphorylation.

Dempsey DR et al.

Nature Structural & Molecular Biology, 2021

Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.

Charo LM et al.

Molecular Oncology, 2021

32881280 (PubMed )
Supplement: MOL2-15-67-s001.docx

PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis.

Innella G et al.

Frontiers in Medicine, 2021

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_S5_increase_aggreg_analysis.xlsx › Hydrophob._miss_trunc_ins_dels

Differences in the molecular profile of endometrial cancers from British White and British South Asian women.

Polymeros K et al.

Plos One, 2020

32520976 (PubMed )
Supplement: pone.0233900.s001.xlsx › Mapped_mutations

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

Mingo J et al.

European Journal of Human Genetics : Ejhg, 2018

NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing.

Chang PY et al.

Oncotarget, 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

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

Pradella LM et al.

Bmc Cancer, 2014

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