Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.F54S
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TP53

NM_000546.6:p.F54S

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

p53 drives lung cancer regression through a TSC2/TFEB-dependent senescence program.

Wang M et al.

Cancer Discovery, 2025

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

p53 regulates DREAM complex-mediated repression in a p21-independent manner.

Agrawal R et al.

The Embo Journal, 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

Decitabine induces IRF7-mediated immune responses in p53-mutated triple-negative breast cancer: a clinical and translational study.

Wang H et al.

Frontiers of Medicine, 2024

The Competition of Yin and Yang: Exploring the Role of Wild-Type and Mutant p53 in Tumor Progression.

Cai BH et al.

Biomedicines, 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

Multifaceted role for p53 in pancreatic cancer suppression.

Mello SS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

A role of cytoplasmic p53 in the regulation of metabolism shown by bat-mimicking p53 NLS mutant mice.

Sanford JD et al.

Cell Reports, 2023

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1B._Negative_Set

Immune pathways and TP53 missense mutations are associated with longer survival in canine osteosarcoma.

Das S et al.

Communications Biology, 2021

34635775 (PubMed )
Supplement: 42003_2021_2683_MOESM4_ESM.xlsx › S_Data_3

p53 mediates target gene association with nuclear speckles for amplified RNA expression.

Alexander KA et al.

Molecular Cell, 2021

α-Ketoglutarate links p53 to cell fate during tumour suppression.

Morris JP et al.

Nature, 2019

Gain-of-function mutant p53: history and speculation.

Bargonetti J et al.

Journal of Molecular Cell Biology, 2019

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

The Cdkn1aSUPER Mouse as a Tool to Study p53-Mediated Tumor Suppression.

Torgovnick A et al.

Cell Reports, 2018

Structural Basis for the Interaction between p53 Transactivation Domain and the Mediator Subunit MED25.

Lee MS et al.

Molecules (basel, Switzerland), 2018

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

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement

A p53 Super-tumor Suppressor Reveals a Tumor Suppressive p53-Ptpn14-Yap Axis in Pancreatic Cancer.

Mello SS et al.

Cancer Cell, 2017

Mutant p53 establishes targetable tumor dependency by promoting unscheduled replication.

Singh S et al.

The Journal of Clinical Investigation, 2017

An extensive molecular cytogenetic characterization in high-risk chronic lymphocytic leukemia identifies karyotype aberrations and TP53 disruption as predictors of outcome and chemorefractoriness.

Rigolin GM et al.

Oncotarget, 2017

28427204 (PubMed )
Supplement: oncotarget-08-28008-s003.xlsx › Foglio1

The Transactivation Domains of the p53 Protein.

Raj N et al.

Cold Spring Harbor Perspectives in Medicine, 2017

Extensive next-generation sequencing analysis in chronic lymphocytic leukemia at diagnosis: clinical and biological correlations.

Rigolin GM et al.

Journal of Hematology & Oncology, 2016

27633522 (PubMed )
Supplement: 13045_2016_320_MOESM1_ESM.xlsx › Foglio1

Characterization of the p300 Taz2-p53 TAD2 complex and comparison with the p300 Taz2-p53 TAD1 complex.

Miller Jenkins LM et al.

Biochemistry, 2015

Shared structural features of the 9aaTAD family in complex with CBP.

Piskacek M et al.

Molecular Biosystems, 2015

Dynamic roles of p53-mediated metabolic activities in ROS-induced stress responses.

Jiang L et al.

Cell Cycle (georgetown, Tex.), 2015

Inappropriate p53 activation during development induces features of CHARGE syndrome.

Van Nostrand JL et al.

Nature, 2014

Insights into wild-type and mutant p53 functions provided by genetically engineered mice.

Donehower LA

Human Mutation, 2014

Illuminating p53 function in cancer with genetically engineered mouse models.

Garcia PB et al.

Seminars in Cell & Developmental Biology, 2014

Guilty as CHARGED: p53's expanding role in disease.

Van Nostrand JL et al.

Cell Cycle (georgetown, Tex.), 2014

Mutant p53: one name, many proteins.

Freed-Pastor WA et al.

Genes & Development, 2012

Deconstructing p53 transcriptional networks in tumor suppression.

Bieging KT et al.

Trends in Cell Biology, 2012

Mutant p53 disrupts mammary tissue architecture via the mevalonate pathway.

Freed-Pastor WA et al.

Cell, 2012

Distinct p53 transcriptional programs dictate acute DNA-damage responses and tumor suppression.

Brady CA et al.

Cell, 2011

Structure of the p53 transactivation domain in complex with the nuclear receptor coactivator binding domain of CREB binding protein.

Lee CW et al.

Biochemistry, 2010

Effects of stability on the biological function of p53.

Khoo KH et al.

The Journal of Biological Chemistry, 2009

The do's and don'ts of p53 isoforms.

Jänicke RU et al.

Biological Chemistry, 2009

Interaction between the transactivation domain of p53 and PC4 exemplifies acidic activation domains as single-stranded DNA mimics.

Rajagopalan S et al.

The Journal of Biological Chemistry, 2009

The contribution of transactivation subdomains 1 and 2 to p53-induced gene expression is heterogeneous but not subdomain-specific.

Smith JM et al.

Neoplasia (new York, N.y.), 2007

Four domains of p300 each bind tightly to a sequence spanning both transactivation subdomains of p53.

Teufel DP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

The functional domains in p53 family proteins exhibit both common and distinct properties.

Harms KL et al.

Cell Death and Differentiation, 2006

Structural basis for gene activation by p53 family members.

Scoumanne A et al.

Cancer Biology & Therapy, 2005

The interaction of p53 with replication protein A mediates suppression of homologous recombination.

Romanova LY et al.

Oncogene, 2004

Definition of the p53 functional domains necessary for inducing apoptosis.

Zhu J et al.

The Journal of Biological Chemistry, 2000

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