Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.F134Y
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TP53

NM_000546.6:p.F134Y

Associated Papers

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.

Montellier E et al.

Ebiomedicine, 2026

41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.

Fortuno C et al.

Genome Medicine, 2025

41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM2_ESM.xlsx › Table_S2

TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.

Fischer NW et al.

Nature Communications, 2025

41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM12_ESM.xlsx › Fig7b_d

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Montellier E et al.

Iscience, 2024

39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1

Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns.

Wong D et al.

Nature Communications, 2024

Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.

Wong D et al.

Cancer Discovery, 2024

37874259 (PubMed )
Supplement: cd-23-0456_table_s2_suppst2.xlsx › Sheet1

Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.

Sasaki K et al.

Scientific Reports, 2023

36964217 (PubMed )
Supplement: 41598_2023_32092_MOESM1_ESM.xlsx › Suppl._table_S1

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

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

A common polymorphism in the retinoic acid pathway modifies adrenocortical carcinoma age-dependent incidence.

Surakhy M et al.

British Journal of Cancer, 2020

32147670 (PubMed )
Supplement: 41416_2020_764_MOESM1_ESM.docx

Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility.

Samuel N et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

Shlien A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

Structural assessment of single amino acid mutations: application to TP53 function.

Yip YL et al.

Human Mutation, 2006

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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."