Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.I253N
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PTEN

NM_000314.8:p.I253N

Associated Papers

PTEN hamartoma of soft tissue (PHOST) and fibroadipose vascular anomaly (FAVA): a comparative clinicopathologic and molecular analysis.

Xue S et al.

Virchows Archiv : an International Journal of Pathology, 2025

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.

Eberth S et al.

Bmc Research Notes, 2025

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › PTEN

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

Molecular Characterization and Subtyping of Breast Cancer Cell Lines Provide Novel Insights into Cancer Relevant Genes.

Pommerenke C et al.

Cells, 2024

38391914 (PubMed )
Supplement: cells-13-00301-s001.zip › Table_S2.xlsx › Mutations

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

Effectiveness of a genetic test panel designed for gynecological cancer: an exploratory study.

Ida K et al.

Medical Oncology (northwood, London, England), 2019

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

Molecular Pathology of Anaplastic Thyroid Carcinomas: A Retrospective Study of 144 Cases.

Bonhomme B et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

28351340 (PubMed )
Supplement: sj-pdf-1-thy-10.1089_thy.2016.0254.pdf

BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.

Kemper K et al.

Cell Reports, 2016

27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix

InsR/IGF1R Pathway Mediates Resistance to EGFR Inhibitors in Glioblastoma.

Ma Y et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

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

p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors.

Gallagher SJ et al.

Neoplasia (new York, N.y.), 2008

Frequent somatic mutations in PTEN and TP53 are mutually exclusive in the stroma of breast carcinomas.

Kurose K et al.

Nature Genetics, 2002

Mutations of the human PTEN gene.

Bonneau D et al.

Human Mutation, 2000

Mutational analysis of the PTEN gene in gliomas: molecular and pathological correlations.

Zhou XP et al.

International Journal of Cancer, 1999

Tumor Mutational Patterns and Infiltrating Lymphocyte Density in Young and Elderly Patients With Breast Cancer.

Nikolaidi A et al.

Cancer Genomics & Proteomics, 0

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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."