Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R248P
Back to variants list

TP53

NM_000546.6:p.R248P

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

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S9

Noninvasive genotyping and early disease dynamics demonstrate the efficacy of ibrutinib in combination with immunochemotherapy in patients with mantle cell lymphoma treated in the TRIANGLE trial.

Khouja M et al.

Leukemia, 2026

41184633 (PubMed )
Supplement: 41375_2025_2787_MOESM2_ESM.xlsx › Table_S5

High-throughput evaluation of genetic variants with prime editing sensor libraries.

Gould SI et al.

Nature Biotechnology, 2025

Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger.

Li J et al.

Npj Genomic Medicine, 2025

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

Landscape of cancer associated EpCAM mutations: molecular modeling, predictive insights and impact on patient survival.

Dhotare PS et al.

Bmc Cancer, 2025

40597801 (PubMed )
Supplement: 12885_2025_14455_MOESM1_ESM.zip › Supplementary_tables.pdf

Investigation of Structural Mechanisms Underlying p53 Dysfunction Caused by 148 Missense Mutations Using AlphaFold3 and Molecular Dynamics Simulations.

Rustamov KR et al.

Journal of Chemical Information and Modeling, 2025

Comprehensive transcriptome, miRNA and kinome profiling identifies new treatment options for personalized lung cancer therapy.

Zhong S et al.

Clinical and Translational Medicine, 2025

39995112 (PubMed )
Supplement: CTM2-15-e70177-s010.xlsx › Sheet1

Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.

Cheo SW et al.

Esmo Open, 2025

40068381 (PubMed )
Supplement: mmc1.xlsx › All_positive

MDM2 inhibition is associated with the emergence of TP53-altered clonal hematopoiesis.

Khanna V et al.

Npj Precision Oncology, 2025

39900989 (PubMed )
Supplement: 41698_2025_823_MOESM1_ESM.pdf

Personalized screening strategies for TP53 R337H carriers: a retrospective cohort study of tumor spectrum in Li-Fraumeni syndrome adult carriers.

Galante PAF et al.

Lancet Regional Health. Americas, 2025

39895904 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer.

Tseng YH et al.

Cell Death Discovery, 2025

39870629 (PubMed )
Supplement: 41420_2025_2300_MOESM2_ESM.xlsx › Supplement_table_2

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

TP53 mutation status and consensus molecular subtypes of colorectal cancer in patients from Rwanda.

Nzitakera A et al.

Bmc Cancer, 2024

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.

Newman H et al.

Haematologica, 2024

38385299 (PubMed )
Supplement: 2023_284855_NEWMAN_SUPPL.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 › TP53

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

TP53 mutation screening for patients at risk of myeloid malignancy.

Mukherjee D et al.

Leukemia, 2024

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

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

Outcome heterogeneity of TP53-mutated myeloid neoplasms and the role of allogeneic hematopoietic cell transplantation.

Pasca S et al.

Haematologica, 2024

37731390 (PubMed )
Supplement: 2023_283886_PASCA_SUPPL.pdf

Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.

Jambhekar A et al.

Blood Neoplasia, 2024

40453522 (PubMed )
Supplement: BNEO_NEO-2023-000115-mmc1.xlsx › MDS

Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.

Zacharias M et al.

Cancers, 2024

38473263 (PubMed )
Supplement: cancers-16-00903-s001.zip › TableS2.xlsx › Tabelle

TP53 mutation screening for patients at risk of myeloid malignancy.

Mukherjee D et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.

de Andrade KC et al.

Hgg Advances, 2024

37777824 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Development, testing and validation of a targeted NGS-panel for the detection of actionable mutations in lung cancer (NSCLC) using anchored multiplex PCR technology in a multicentric setting.

Kumbrink J et al.

Pathology Oncology Research : Por, 2024

38605929 (PubMed )
Supplement: Table1.XLSX › Sup_Table_1_Comparison_details

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

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

E2F7 drives autotaxin/Enpp2 transcription via chromosome looping: Repression by p53 in murine but not in human carcinomas.

Lin KH et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023

Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas.

Varadi M et al.

Cancer Medicine, 2023

36670542 (PubMed )
Supplement: CAM4-12-9041-s001.xlsx › QCI_-_UrC_-_Chemo

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_S4

Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Tam B et al.

Iscience, 2023

36879825 (PubMed )
Supplement: mmc2.xlsx › TP53

The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.

Jin Y et al.

Journal of Oncology, 2023

RB1 aberrations predict outcomes of immune checkpoint inhibitor combination therapy in NSCLC.

Wang Q et al.

Frontiers in Oncology, 2023

37441425 (PubMed )
Supplement: Table_3.xlsx › mutations

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_2.xlsx › all_patients_lung

Multigene panel next generation sequencing in metastatic colorectal cancer in an Australian population.

Nindra U et al.

Plos One, 2023

37796807 (PubMed )
Supplement: pone.0292087.s001.xlsx › Sheet1

Unraveling the Structural Changes in the DNA-Binding Region of Tumor Protein p53 (TP53) upon Hotspot Mutation p53 Arg248 by Comparative Computational Approach.

Balasundaram A et al.

International Journal of Molecular Sciences, 2022

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Boström M et al.

Nature Communications, 2022

36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM10_ESM.xlsx › Supplementary_Data_7

Predictive Value of the TP53 p.G245S Mutation Frequency for the Short-Term Recurrence of Hepatocellular Carcinoma as Detected by Pyrophosphate Sequencing.

Yu X et al.

Genetic Testing and Molecular Biomarkers, 2022

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TP53
1–50 of 130 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."