Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.S261Splc
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TP53

NM_000546.6:p.S261Splc

Associated Papers

TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.

Liu S et al.

Annals of Hematology, 2026

41559357 (PubMed )
Supplement: 277_2026_6771_MOESM2_ESM.xlsx › TableS3

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

Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands.

de Bitter TJJ et al.

Scientific Reports, 2025

40830613 (PubMed )
Supplement: 41598_2025_13667_MOESM2_ESM.xlsx › Supplementary_Table_2

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

Structural and mechanistic diversity in p53-mediated regulation of organismal longevity across taxonomical orders.

Osbourne R et al.

Plos Computational Biology, 2025

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

Fortuno C et al.

Human Genomics, 2025

39780207 (PubMed )
Supplement: 40246_2024_714_MOESM4_ESM.xlsx › Supplementary_Table_1

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

Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.

Khalil SS et al.

Cureus, 2024

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › PVs

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_MOESM7_ESM.xlsx › supplemental_file_5

Monitoring of Circulating Tumor DNA Predicts Response to Treatment and Early Progression in Follicular Lymphoma: Results of a Prospective Pilot Study.

Fernández-Miranda I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36269794 (PubMed )
Supplement: ccr-22-1654_supplementary_data_2_suppds2.xlsx › Table_S6__Mutational_data

Clonal hematopoiesis, myeloid disorders and BAX-mutated myelopoiesis in patients receiving venetoclax for CLL.

Blombery P et al.

Blood, 2022

34469514 (PubMed )
Supplement: mmc1.pdf

Single-cell sequencing demonstrates complex resistance landscape in CLL and MCL treated with BTK and BCL2 inhibitors.

Thompson ER et al.

Blood Advances, 2022

34861696 (PubMed )
Supplement: advancesADV2021006211-suppl1.pdf

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index

TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study.

Catherwood MA et al.

Frontiers in Oncology, 2022

35837095 (PubMed )
Supplement: Table_1.xlsx › Table_1

Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study.

Sutton LA et al.

Haematologica, 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

Systematic Analysis of Splice-Site-Creating Mutations in Cancer.

Jayasinghe RG et al.

Cell Reports, 2018

29617666 (PubMed )
Supplement: NIHMS958979-supplement-1.pdf

The Hobnail Variant of Papillary Thyroid Carcinoma: Clinical/Molecular Characteristics of a Large Monocentric Series and Comparison with Conventional Histotypes.

Watutantrige-Fernando S et al.

Thyroid : Official Journal of the American Thyroid Association, 2018

Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.

Yi Z et al.

Scientific Reports, 2017

28729728 (PubMed )
Supplement: 41598_2017_6327_MOESM1_ESM.pdf

The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.

Diederichs S et al.

Embo Molecular Medicine, 2016

26992833 (PubMed )
Supplement: EMMM-8-442-s002.docx

Structure-Based Analysis Reveals Cancer Missense Mutations Target Protein Interaction Interfaces.

Engin HB et al.

Plos One, 2016

27043210 (PubMed )
Supplement: pone.0152929.s003.xlsx › mut_effects_per_ppi

B-cell receptor configuration and mutational analysis of patients with chronic lymphocytic leukaemia and trisomy 12 reveal recurrent molecular abnormalities.

Falisi E et al.

Hematological Oncology, 2014

Identification of colorectal cancer patients with tumors carrying the TP53 mutation on the codon 72 proline allele that benefited most from 5-fluorouracil (5-FU) based postoperative chemotherapy.

Godai TI et al.

Bmc Cancer, 2009

19954513 (PubMed )
Supplement: 1471-2407-9-420-S3.XLS › Sheet1

Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors.

Favis R et al.

Human Mutation, 2004

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

Holmila R et al.

Human Mutation, 2003

Human tumor-derived p53 proteins exhibit binding site selectivity and temperature sensitivity for transactivation in a yeast-based assay.

Di Como CJ et al.

Oncogene, 1998

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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."