Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R282Q
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TP53

NM_000546.6:p.R282Q

Associated Papers

Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.

Jansche R et al.

Cell Death & Disease, 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 › TableS3

SOMATIC GENE VARIANTS IN UNRESECTABLE CUTANEOUS MELANOMA CELLS AND DETECTION OF PHARMACOGENOMIC MARKERS: INFLUENCE ON STRATEGY OF EFFECTIVE CANCER TREATMENT.

Gulkovskyi R et al.

Experimental Oncology, 2025

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral

Citrullination negatively regulates the functions of the p53 protein and opposes its ubiquitination and degradation.

Yang YF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.

Fortuno C et al.

Hgg Advances, 2025

TP53 P72R Polymorphism Is Associated With P53 Protein Expression in Fatal Prostate Cancer: A Novel Case Report and Review of the Literature.

Asili P et al.

Cureus, 2025

Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.

Moses R et al.

Biorxiv : the Preprint Server for Biology, 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

Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis.

Gaspar LM et al.

Journal of Clinical & Translational Endocrinology, 2025

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_5_suppst5.xlsx › Sheet1

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

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

Identify Non-mutational p53 Functional Deficiency in Human Cancers.

Li Q et al.

Genomics, Proteomics & Bioinformatics, 2024

39325855 (PubMed )
Supplement: qzae064_supplementary_data.zip › SupplementaryTable8-done.xlsx › Sheet1

Molecular profile of driver genes in lung adenocarcinomas of Brazilian patients who have never smoked: implications for targeted therapies.

Cavagna RO et al.

The Oncologist, 2024

38944844 (PubMed )
Supplement: oyae129_suppl_supplementary_table_2.xlsx › Supplementary_Table_1

Skin Cancer Risk Is Increased by Somatic Mutations Detected Noninvasively in Healthy-Appearing Sun-Exposed Skin.

Kaur K et al.

The Journal of Investigative Dermatology, 2024

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

RAS-ON inhibition overcomes clinical resistance to KRAS G12C-OFF covalent blockade.

Nokin MJ et al.

Nature Communications, 2024

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

Direct measurement of engineered cancer mutations and their transcriptional phenotypes in single cells.

Kim HS et al.

Nature Biotechnology, 2024

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

Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes.

Bouras A et al.

Genes, Chromosomes & Cancer, 2024

Diverse landscape of genetically engineered mouse models: Genomic and molecular insights into prostate cancer.

Kaushal JB et al.

Cancer Letters, 2024

Genomic profiles of Japanese patients with vulvar squamous cell carcinoma.

Fujii E et al.

Scientific Reports, 2024

38844774 (PubMed )
Supplement: 41598_2024_63913_MOESM5_ESM.xlsx › Supplementary_Table2

Genome-wide somatic mutation analysis of sinonasal adenocarcinoma with and without wood dust exposure.

Sipilä LJ et al.

Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2024

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

Khalil SS et al.

Cureus, 2024

Exploring the Functions of Mutant p53 through TP53 Knockout in HaCaT Keratinocytes.

Romashin D et al.

Current Issues in Molecular Biology, 2024

Early Cancer Detection in Li-Fraumeni Syndrome with Cell-Free DNA.

Wong D et al.

Cancer Discovery, 2024

37874259 (PubMed )
Supplement: cd-23-0456_table_s2_suppst2.xlsx › Sheet1

The Genomic Landscape of Colorectal Cancer in the Saudi Arabian Population Using a Comprehensive Genomic Panel.

Alsolme E et al.

Diagnostics (basel, Switzerland), 2023

Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.

Orzan F et al.

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

36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_idenetified_in_Cohort2

p53 Expression in Luminal Breast Cancer Correlates With TP53 Mutation and Primary Endocrine Resistance.

Mueller S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

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

Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Ariste O et al.

Clinical Genetics, 2023

36353970 (PubMed )
Supplement: CGE-103-247-s001.xlsx › Variants_in_CHIP_Genes

Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.

Hurník P et al.

Frontiers in Oncology, 2023

38188288 (PubMed )
Supplement: Table_5.xlsx › S5

The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.

Lazarian G et al.

Human Mutation, 2023

40225169 (PubMed )
Supplement: 4880113.f1.zip › table_S3.xlsx › table_S3

Genetic Profiling of Colorectal Carcinomas of Patients with Primary Sclerosing Cholangitis and Inflammatory Bowel Disease.

de Krijger M et al.

Inflammatory Bowel Diseases, 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

Harmonizing variant classification for return of results in the All of Us Research Program.

Harrison SM et al.

Human Mutation, 2022

34923710 (PubMed )
Supplement: HUMU-43-1114-s002.xlsx › Supplemental_Table_1

A role for bioinorganic chemistry in the reactivation of mutant p53 in cancer.

Miller JJ et al.

Journal of Biological Inorganic Chemistry : Jbic : a Publication of the Society of Biological Inorganic Chemistry, 2022

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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."