Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R273C
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TP53

NM_000546.6:p.R273C

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Innovative Drug and Prodrug Candidates in Cancer Treatment Targeting TP53 Mutations: Challenge and Hope.

Al-Zoubi RM et al.

Drug Development Research, 2026

Preclinical drug screen identifies WEE1 inhibitor and vinca alkaloid as a combination treatment concept for Li-Fraumeni syndrome medulloblastoma.

Kolodziejczak AS et al.

Iscience, 2026

Donor-derived del[20q] following allogeneic-hematopoietic cell transplantation: a case with 26-year follow-up and literature review.

Bouley C et al.

Bone Marrow Transplantation, 2026

Cell-free DNA from cerebrospinal fluid cytology specimens as a novel liquid biopsy approach for pediatric patients with primary central nervous system tumors.

Chun N et al.

Acta Neuropathologica Communications, 2026

Precision oncology in Bulgaria: a prospective study of metastatic colorectal cancer patients.

Dimitrov G et al.

Cancer Treatment and Research Communications, 2026

Bile Acid-Induced Aggregation and Phase Separation of Mutant p53 Leads to Doxorubicin Sequestration.

Kaur H et al.

Biomacromolecules, 2026

Correlation between P53 immunohistochemical staining and TP53 molecular testing in endometrial carcinomas: a detailed assessment of discrepant cases with implications for patient management.

Machuca-Aguado J et al.

Histopathology, 2026

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

Etiology of TP53 mutated complex karyotype acute myeloid leukemia.

Fedenko A et al.

Leukemia, 2026

41419603 (PubMed )
Supplement: 41375_2025_2835_MOESM1_ESM.pdf

TP53 co-mutations are associated with elevated PD-L1 expression and high tumor mutational burden in non-small cell lung cancer: insights from comprehensive genomic profiling.

Yang Y et al.

Translational Lung Cancer Research, 2026

Next-Generation Sequencing-Based Detection of KRAS G12D Variants in Colorectal Cancer: A Retrospective Cohort Study.

Hekimoglu G et al.

Genes, 2026

Genomic enrichment and functional impact of TP53 and CYLD alterations in recurrent and metastatic HPV-associated head and neck cancer.

Prasad M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10

Oncogenic p53 induces mitotic errors in lung cancer cells by recopying DNA replication forks conferring targetable proliferation advantage.

Singh S et al.

Cell Death and Differentiation, 2026

Correlation analysis of TP53 missense mutations and p53 protein expression patterns in endometrial carcinoma.

Yang Y et al.

Human Pathology, 2026

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 › TableS2

Molecular characterization of clear cell adenocarcinoma of the urinary bladder.

Jha S et al.

Histopathology, 2026

Analytical Validation and Clinical Sensitivity of the Belay Summit™ 2.0 Cerebrospinal Fluid Liquid Biopsy Test-An Expanded Comprehensive Genomic Profiling Platform for Central Nervous System Malignancies.

Khurana S et al.

Cancers, 2026

T cell receptor-engineered T cells targeting the TP53R248Q neoantigen elicit antitumor effects in human cancer models.

Shen L et al.

The Journal of Clinical Investigation, 2026

Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours.

Dorwal P et al.

Journal of Clinical Laboratory Analysis, 2026

Acquired on-target alterations drive clinical resistance to p53-Y220C reactivators.

Fece de la Cruz F et al.

Cancer Discovery, 2026

Inhibition of GPX4 induces the death of p53-mutant triple-negative breast cancer cells.

Tahaney WM et al.

Breast Cancer Research and Treatment, 2026

41493644 (PubMed )
Supplement: 10549_2025_7865_MOESM12_ESM.xlsx › Table_S2

Mutant p53: evolving perspectives.

Efe G et al.

Genes & Development, 2026

Decoding the Mutational Hierarchy of Thyroid Cancer and Associated Signaling Pathways.

Nashier D et al.

Archives of Medical Research, 2026

Clinical utility of longitudinal circulating tumor DNA analysis in metastatic colorectal cancer patients receiving palliative chemotherapy.

Oh CR et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

Association of ASXL1 and RUNX1 Variants with Splenomegaly in Myelodysplastic Syndromes Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study.

Huh Y et al.

Annals of Laboratory Medicine, 2026

40619576 (PubMed )
Supplement: alm-46-1-104-supple1.xlsx › TableS3

A Case of a Fumarate Hydratase Deficient Astrocytoma in Association With a Germline Fumarate Hydratase Mutation With Review of the Literature: Considerations for Patients With Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome.

Alfattal R et al.

The American Journal of Surgical Pathology, 2026

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc4.xlsx › Sheet_1

The future is now: advancing p53 immunohistochemistry in Barrett's oesophagus and its implication for the everyday pathologist.

Chornenkyy Y et al.

Histopathology, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

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

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

Montellier E et al.

Ebiomedicine, 2026

Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma.

Fernandez NR et al.

Nature Genetics, 2026

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S4_Table

Exon-level TP53 alterations and PD-L1 expression identified by pretreatment NGS stratify survival in EGFR-mutant non-small cell lung cancer treated with first-line osimertinib.

Kim SE et al.

Translational Lung Cancer Research, 2025

41510380 (PubMed )
Supplement: tlcr-14-12-5283-supplementary.pdf

A Computational Approach for the Prediction of p53 and BCL-2 Protein-Protein Interactions.

Creamer C et al.

International Journal of Molecular Sciences, 2025

Molecular Characterization of Adult-Type Lower-Grade Glioma (WHO Grade 1-3) with Targeted Next-Generation Sequencing: A Retrospective, Single-Institution Experience.

Pinamonti M et al.

Journal of Clinical Medicine, 2025

Widespread Epistasis between Cancer Driver Mutations and Allele-Specific Copy Number Variations.

Merzliakov S et al.

Biorxiv : the Preprint Server for Biology, 2025

Integrative sWGS: A New Paradigm for HRD Detection in Ovarian Cancer.

Jinga DC et al.

International Journal of Molecular Sciences, 2025

41465396 (PubMed )
Supplement: ijms-26-11968-s001.zip › File_S1.xlsx › Sheet1

Genotyping and molecular dynamic simulations reveal the role of MSH2 DNA repair polymorphisms in lung cancer risk.

Singh S et al.

Journal of Biomolecular Structure & Dynamics, 2025

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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."