Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.C124S
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TP53

NM_000546.6:p.C124S

Associated Papers

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

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

Fortuno C et al.

Hgg Advances, 2025

40696762 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_3

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

GnomAD Missense Variants of Uncertain Significance: Implications for p53 Stability and Phosphorylation.

García-Ayala FD et al.

International Journal of Molecular Sciences, 2025

The Histomorphology to Molecular Transition: Exploring the Genomic Landscape of Poorly Differentiated Epithelial Endometrial Cancers.

Molefi T et al.

Cells, 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

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

Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.

Boruah N et al.

Biorxiv : the Preprint Server for Biology, 2024

38617260 (PubMed )
Supplement: media-2.xlsx › S3

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

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

A Small Molecule Reacts with the p53 Somatic Mutant Y220C to Rescue Wild-type Thermal Stability.

Guiley KZ et al.

Cancer Discovery, 2023

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 › TP53

Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.

Tam B et al.

International Journal of Molecular Sciences, 2021

34768775 (PubMed )
Supplement: ijms-22-11345-s001.zip › Supplementary_table › Supplementary_table_1.xlsx › Sheet1

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_3.xlsx › Sheet1

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Doffe F et al.

Cell Death and Differentiation, 2021

33257846 (PubMed )
Supplement: 41418_2020_672_MOESM3_ESM.xlsx › Table_S2c

Nucleophosmin Protein Dephosphorylation by DUSP3 Is a Fine-Tuning Regulator of p53 Signaling to Maintain Genomic Stability.

Russo LC et al.

Frontiers in Cell and Developmental Biology, 2021

33777934 (PubMed )
Supplement: Data_Sheet_1.docx

Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer.

Sheng S et al.

International Journal of 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

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

de Andrade KC et al.

Human Mutation, 2019

30352134 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_1

The curcumin analog HO-3867 selectively kills cancer cells by converting mutant p53 protein to transcriptionally active wildtype p53.

Madan E et al.

The Journal of Biological Chemistry, 2018

Structural mutation analysis of PTEN and its genotype-phenotype correlations in endometriosis and cancer.

Smith IN et al.

Proteins, 2016

Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders.

Johnston SB et al.

Biochemistry, 2015

Oxidation of p53 through DNA charge transport involves a network of disulfides within the DNA-binding domain.

Schaefer KN et al.

Biochemistry, 2015

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

Sub1 and RPA associate with RNA polymerase II at different stages of transcription.

Sikorski TW et al.

Molecular Cell, 2011

15-Deoxy-Delta(12,14)-prostaglandin J(2) stabilizes, but functionally inactivates p53 by binding to the cysteine 277 residue.

Kim DH et al.

Oncogene, 2010

Effect of thioredoxin deletion and p53 cysteine replacement on human p53 activity in wild-type and thioredoxin reductase null yeast.

Stoner CS et al.

Biochemistry, 2009

A workflow for mutation extraction and structure annotation.

Kanagasabai R et al.

Journal of Bioinformatics and Computational Biology, 2007

Human p53 is inhibited by glutathionylation of cysteines present in the proximal DNA-binding domain during oxidative stress.

Velu CS et al.

Biochemistry, 2007

Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma.

Wang Y et al.

Human Mutation, 2004

Redox state of tumor suppressor p53 regulates its sequence-specific DNA binding in DNA-damaged cells by cysteine 277.

Buzek J et al.

Nucleic Acids Research, 2002

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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."