Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P27A
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TP53

NM_000546.6:p.P27A

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

Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.

Usui Y et al.

Blood Cancer Discovery, 2025

40525786 (PubMed )
Supplement: bcd-24-0355_table_s2_suppst2.xlsx › Sheet1

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.

Canson DM et al.

Npj Genomic Medicine, 2025

40341019 (PubMed )
Supplement: 41525_2025_498_MOESM2_ESM.xlsx › Data_S2

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

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 › TP53

Structural Adaptation of Secondary p53 Binding Sites on MDM2 and MDMX.

Higbee PS et al.

Journal of Molecular Biology, 2024

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

Immune pathways and TP53 missense mutations are associated with longer survival in canine osteosarcoma.

Das S et al.

Communications Biology, 2021

34635775 (PubMed )
Supplement: 42003_2021_2683_MOESM4_ESM.xlsx › S_Data_3

Significant impact of circulating tumour DNA mutations on survival in metastatic breast cancer patients.

Muendlein A et al.

Scientific Reports, 2021

33762647 (PubMed )
Supplement: 41598_2021_86238_MOESM2_ESM.xlsx › Tabelle1

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement

In Situ Monitoring of p53 Protein and MDM2 Protein Interaction in Single Living Cells Using Single-Molecule Fluorescence Spectroscopy.

Du Z et al.

Analytical Chemistry, 2018

Conserved Helix-Flanking Prolines Modulate Intrinsically Disordered Protein:Target Affinity by Altering the Lifetime of the Bound Complex.

Crabtree MD et al.

Biochemistry, 2017

Structural basis of how stress-induced MDMX phosphorylation activates p53.

Chen X et al.

Oncogene, 2016

Disorder and residual helicity alter p53-Mdm2 binding affinity and signaling in cells.

Borcherds W et al.

Nature Chemical Biology, 2014

Molecular dynamic simulation insights into the normal state and restoration of p53 function.

Fu T et al.

International Journal of Molecular Sciences, 2012

C-terminal substitution of MDM2 interacting peptides modulates binding affinity by distinctive mechanisms.

Brown CJ et al.

Plos One, 2011

Systematic mutational analysis of peptide inhibition of the p53-MDM2/MDMX interactions.

Li C et al.

Journal of Molecular Biology, 2010

Molecular mechanism of the interaction between MDM2 and p53.

Schon O et al.

Journal of Molecular Biology, 2002

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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."