Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.C124R
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TP53

NM_000546.6:p.C124R

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

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

Montellier E et al.

Ebiomedicine, 2026

41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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_MOESM2_ESM.xlsx › Table_S2

TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.

Fischer NW et al.

Nature Communications, 2025

41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM8_ESM.zip › Supp_Data_6 › S3_SNV.xlsx › s4_TP53

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc8.xlsx › Sheet1

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_3.

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

Pharmacological rescue of mutant p53 triggers spontaneous tumor regression via immune responses.

Li J et al.

Cell Reports. Medicine, 2025

Comprehensive computational analysis of deleterious nsSNPs in PTEN gene for structural and functional insights.

Sharma D et al.

Molecular Biology Research Communications, 2025

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Montellier E et al.

Iscience, 2024

39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1

Li-Fraumeni-associated osteosarcomas: The French experience.

Saucier E et al.

Pediatric Blood & Cancer, 2024

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Fortuno C et al.

European Journal of Human Genetics : Ejhg, 2024

39402389 (PubMed )
Supplement: 41431_2024_1705_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

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

Khalil SS et al.

Cureus, 2024

Utility of Circulating Tumor DNA Assay in Identifying Mutations and Guiding Matched Targeted Therapy in Lung Cancers.

Li K et al.

Clinical Medicine Insights. Oncology, 2024

39429681 (PubMed )
Supplement: sj-xlsx-9-onc-10.1177_11795549241285238.xlsx › Sheet1

AcGlcAs: A Novel P53-Targeting Arsenical with Potent Cellular Uptake and Cancer Cell Selectivity.

Liang Y et al.

Journal of Medicinal Chemistry, 2023

Samples from patients with AML show high concordance in detection of mutations by NGS at local institutions vs central laboratories.

Borate U et al.

Blood Advances, 2023

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_1.xlsx › Table_S1

Diverse rescue potencies of p53 mutations to ATO are predetermined by intrinsic mutational properties.

Song H et al.

Science Translational Medicine, 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_S1

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table2.xlsx › PTEN

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

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

Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.

Mamlouk S et al.

Bmc Biology, 2020

32895052 (PubMed )
Supplement: 12915_2020_844_MOESM3_ESM.xlsx › CRC_Panel_seq.

Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience.

Pondrom M et al.

Pediatric Blood & Cancer, 2020

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

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-3.xlsx › Sheet1

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5m

Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Bennett TM et al.

Plos One, 2017

29267365 (PubMed )
Supplement: pone.0189881.s008.xlsx › S8a._Cat__1__all

TP53 exon-6 truncating mutations produce separation of function isoforms with pro-tumorigenic functions.

Shirole NH et al.

Elife, 2016

27759562 (PubMed )
Supplement: elife-17929-supp2.xlsx › Sheet3

Improving survival by exploiting tumour dependence on stabilized mutant p53 for treatment.

Alexandrova EM et al.

Nature, 2015

Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery.

Hudson AM et al.

Cancer Research, 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

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Common oncogenic mutations are infrequent in oral squamous cell carcinoma of Asian origin.

Zanaruddin SN et al.

Plos One, 2013

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

The targeting of the proteasomal regulatory subunit S2 by adenovirus E1A causes inhibition of proteasomal activity and increased p53 expression.

Zhang X et al.

The Journal of Biological Chemistry, 2004

Pancreatic Adenocarcinoma with Co-Occurrence of KRAS and EGFR Mutations: Case Report and Literature Review.

Mody J et al.

Case Reports in Oncology, 0

The Nuclear Face of PTEN: Implications in Cancer Prognosis and Targeted Therapy.

Ghosh MK et al.

Biofactors (oxford, England), 0

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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."