Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.S261Splc
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TP53

NM_000546.6:p.S261Splc

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

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_MOESM1_ESM.xlsx › Table_S1

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.

Fortuno C et al.

Human Genomics, 2025

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM5_ESM.xlsx › SuppFig6

Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.

Tam B et al.

Briefings in Bioinformatics, 2024

39140857 (PubMed )
Supplement: table_s1_bbae400.xlsx › Sheet1

Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.

Tam CS et al.

Blood Advances, 2024

38315878 (PubMed )
Supplement: BLOODA_ADV-2023-010906-mmc1.pdf

Clonal Relationship and Mutation Analysis in Lymphoplasmacytic Lymphoma/Waldenström Macroglobulinemia Associated With Diffuse Large B-cell Lymphoma.

Berendsen MR et al.

Hemasphere, 2023

37928625 (PubMed )
Supplement: hs9-7-e976-s001.xlsx › Suppl._Table_S6

Variant allele frequency changes in TP53 predict pembrolizumab response in patients with metastatic urothelial carcinoma.

Hamada K et al.

Oncology Letters, 2023

37559592 (PubMed )
Supplement: Supplementary_Data2.xlsx › Sheet1

Circulating Tumor DNA in Head and Neck Squamous Cell Carcinoma: Association with Metabolic Tumor Burden Determined with FDG-PET/CT.

Silvoniemi A et al.

Cancers, 2023

37568786 (PubMed )
Supplement: cancers-15-03970-s001.zip › cancers-2472979-supplementary.pdf

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6

Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Chen S et al.

Bmc Genomics, 2022

35031014 (PubMed )
Supplement: 12864_2021_8289_MOESM1_ESM.xlsx › Table_S1

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Doffe F et al.

Cell Death and Differentiation, 2021

33257846 (PubMed )
Supplement: 41418_2020_672_MOESM3_ESM.xlsx › Table_S2c

Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Romero-Cordoba SL et al.

Nature Communications, 2021

33854067 (PubMed )
Supplement: 41467_2021_22478_MOESM9_ESM.xlsx › Driver_mutation_in_HM

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

Thrombotic Risk Detection in Patients with Polycythemia Vera: The Predictive Role of DNMT3A/TET2/ASXL1 Mutations.

Segura-Díaz A et al.

Cancers, 2020

32290079 (PubMed )
Supplement: cancers-12-00934-s001.pdf

Deep targeted sequencing of TP53 in chronic lymphocytic leukemia: clinical impact at diagnosis and at time of treatment.

Brieghel C et al.

Haematologica, 2019

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas.

Helbig D et al.

Oncotarget, 2017

Complex analysis of the TP53 tumor suppressor in mantle cell and diffuse large B-cell lymphomas.

Zlamalikova L et al.

Oncology Reports, 2017

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

Concordance between genomic alterations assessed by next-generation sequencing in tumor tissue or circulating cell-free DNA.

Chae YK et al.

Oncotarget, 2016

27588476 (PubMed )
Supplement: oncotarget-07-65364-s001.pdf

Mutations in the exon 7 of Trp53 gene and the level of p53 protein in double transgenic mouse model of Alzheimer's disease.

Dorszewska J et al.

Folia Neuropathologica, 2014

Prognostic and predictive value of TP53 mutations in node-positive breast cancer patients treated with anthracycline- or anthracycline/taxane-based adjuvant therapy: results from the BIG 02-98 phase III trial.

Fernández-Cuesta L et al.

Breast Cancer Research : Bcr, 2012

22551440 (PubMed )
Supplement: bcr3179-S4.PDF

Splice mutations in the p53 gene: case report and review of the literature.

Holmila R et al.

Human Mutation, 2003

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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."