Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L330R
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TP53

NM_000546.6:p.L330R

Associated Papers

Identification of high-risk signatures and therapeutic targets through molecular characterization and immune profiling of TP53-mutant breast cancer.

Paulino PJIV et al.

Journal, Genetic Engineering & Biotechnology, 2025

41386839 (PubMed )
Supplement: mmc5.xlsx › Table_S3

Erythroblastic Sarcoma in Adults and Children: Different Pathways to the Same Destination.

Fitzpatrick MJ et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.

Li J et al.

Discover Oncology, 2025

40053265 (PubMed )
Supplement: 12672_2025_2008_MOESM1_ESM.xlsx › Table_S2

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4

Interaction of p53 with the Δ133p53α and Δ160p53α isoforms regulates p53 conformation and transcriptional activity.

Tomas F et al.

Cell Death & Disease, 2024

39562560 (PubMed )
Supplement: 41419_2024_7213_MOESM1_ESM.pdf

A Next-Generation BRAF Inhibitor Overcomes Resistance to BRAF Inhibition in Patients with BRAF-Mutant Cancers Using Pharmacokinetics-Informed Dose Escalation.

Yaeger R et al.

Cancer Discovery, 2024

38691346 (PubMed )
Supplement: cd-24-0024_table_s5_suppst5.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

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

Duvelisib Eliminates CLL B Cells, Impairs CLL-Supporting Cells, and Overcomes Ibrutinib Resistance in a Xenograft Model.

Chen SS et al.

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

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

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

Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Wu L et al.

Nature Communications, 2022

35871175 (PubMed )
Supplement: 41467_2022_31780_MOESM6_ESM.xlsx › Supplementary_Data_4

Evaluation of the Clinical Utility of Genomic Profiling to Inform Selection of Clinical Trial Therapy in Salivary Gland Cancer.

Rack S et al.

Cancers, 2022

Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients.

Waldenmaier M et al.

Cancers, 2022

Genomic landscape of lung cancer in the young.

Ruiz R et al.

Frontiers in Oncology, 2022

36263208 (PubMed )
Supplement: DataSheet_2.pdf

p53/p73 Protein Network in Colorectal Cancer and Other Human Malignancies.

Horvat A et al.

Cancers, 2021

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

p53 tetramerization: at the center of the dominant-negative effect of mutant p53.

Gencel-Augusto J et al.

Genes & Development, 2020

The lncRNA SLNCR Recruits the Androgen Receptor to EGR1-Bound Genes in Melanoma and Inhibits Expression of Tumor Suppressor p21.

Schmidt K et al.

Cell Reports, 2019

31116991 (PubMed )
Supplement: NIHMS1530019-supplement-1.pdf

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Machine Learning Classification and Structure-Functional Analysis of Cancer Mutations Reveal Unique Dynamic and Network Signatures of Driver Sites in Oncogenes and Tumor Suppressor Genes.

Agajanian S et al.

Journal of Chemical Information and Modeling, 2018

Receptor Tyrosine Kinase Fusions and BRAF Kinase Fusions are Rare but Actionable Resistance Mechanisms to EGFR Tyrosine Kinase Inhibitors.

Schrock AB et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2018

Genomic Profiling of Patient-Derived Xenografts for Lung Cancer Identifies B2M Inactivation Impairing Immunorecognition.

Pereira C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

28302866 (PubMed )
Supplement: 10780432ccr161946t-sup-169990_2_supp_3753021_qh1cqs.pdf

Prediction and prioritization of neoantigens: integration of RNA sequencing data with whole-exome sequencing.

Karasaki T et al.

Cancer Science, 2017

27960040 (PubMed )
Supplement: CAS-108-170-s006.xlsx › Suppl_Table_3

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

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Tetramerization-defects of p53 result in aberrant ubiquitylation and transcriptional activity.

Lang V et al.

Molecular Oncology, 2014

TP53 mutations in human cancer: database reassessment and prospects for the next decade.

Leroy B et al.

Human Mutation, 2014

24665023 (PubMed )
Supplement: supplement_1.pdf

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.

Van Allen EM et al.

Nature Medicine, 2014

24836576 (PubMed )
Supplement: NIHMS531666-supplement-10.xlsx › Sheet1

Protein interaction between p53 and Δ113p53 is required for the anti-apoptotic function of Δ113p53.

Ou Z et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2014

The gene expression signature associated with TP53 mutation/deletion in chronic lymphocytic leukaemia is dominated by the under-expression of TP53 and other genes on chromosome 17p.

Lin K et al.

British Journal of Haematology, 2013

Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

Kamada R et al.

The Journal of Biological Chemistry, 2011

Oligomerization conditions Mdm2-mediated efficient p53 polyubiquitylation but not its proteasomal degradation.

Hjerpe R et al.

The International Journal of Biochemistry & Cell Biology, 2010

Evaluation of transcriptional activity of p53 in individual living mammalian cells.

Imagawa T et al.

Analytical Biochemistry, 2009

Effects of tumor-associated mutations in the p53 tetramerization domain on oligomerization state and transcriptional activity.

Kamada R et al.

Advances in Experimental Medicine and Biology, 2009

p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma.

Fiszer-Maliszewska L et al.

Familial Cancer, 2009

Parallel analysis of tetramerization domain mutants of the human p53 protein using PCR colonies.

Merritt J et al.

Genomic Medicine, 2007

The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.

Kawaguchi T et al.

Oncogene, 2005

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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."