Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L25Q
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TP53

NM_000546.6:p.L25Q

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

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › RDW_cohort

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

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.

Serebriiskii IG et al.

Npj Genomic Medicine, 2023

38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S8

The role of truncated p53 isoforms in the DNA damage response.

Steffens Reinhardt L et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 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

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

Hepatic ribosomal protein S6 (Rps6) insufficiency results in failed bile duct development and loss of hepatocyte viability; a ribosomopathy-like phenotype that is partially p53-dependent.

Comerford SA et al.

Plos Genetics, 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

The oncogenicity of tumor-derived mutant p53 is enhanced by the recruitment of PLK3.

Vaughan CA et al.

Nature Communications, 2021

Zmat3 splices together p53-dependent tumor suppression.

Bieging-Rolett KT et al.

Molecular & Cellular Oncology, 2021

How the Other Half Lives: What p53 Does When It Is Not Being a Transcription Factor.

Ho T et al.

International Journal of Molecular Sciences, 2019

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

Morris JP et al.

Nature, 2019

The Spatiotemporal Pattern and Intensity of p53 Activation Dictates Phenotypic Diversity in p53-Driven Developmental Syndromes.

Bowen ME et al.

Developmental Cell, 2019

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

Torgovnick A et al.

Cell Reports, 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

Emerging Roles of p53 Family Members in Glucose Metabolism.

Itahana Y et al.

International Journal of Molecular Sciences, 2018

The proline rich domain of p53 is dispensable for MGMT-dependent DNA repair and cell survival following alkylation damage.

Baran K et al.

Cell Death and Differentiation, 2017

The Transactivation Domains of the p53 Protein.

Raj N et al.

Cold Spring Harbor Perspectives in Medicine, 2017

Tumor suppressor p53 and its mutants in cancer metabolism.

Liu J et al.

Cancer Letters, 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

p53 DNA binding cooperativity is essential for apoptosis and tumor suppression in vivo.

Timofeev O et al.

Cell Reports, 2013

p53 N-terminal phosphorylation: a defining layer of complex regulation.

Jenkins LM et al.

Carcinogenesis, 2012

Deconstructing p53 transcriptional networks in tumor suppression.

Bieging KT et al.

Trends in Cell Biology, 2012

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

Brady CA et al.

Cell, 2011

In vivo analysis of p53 tumor suppressor function using genetically engineered mouse models.

Kenzelmann Broz D et al.

Carcinogenesis, 2010

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.

McGowan KA et al.

Nature Genetics, 2008

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

Crippling p53 activities via knock-in mutations in mouse models.

Iwakuma T et al.

Oncogene, 2007

Regulating the p53 pathway: in vitro hypotheses, in vivo veritas.

Toledo F et al.

Nature Reviews. Cancer, 2006

Dissecting p53-dependent apoptosis.

Chipuk JE et al.

Cell Death and Differentiation, 2006

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

Harms KL et al.

Cell Death and Differentiation, 2006

Tumor susceptibility and apoptosis defect in a mouse strain expressing a human p53 transgene.

Dudgeon C et al.

Cancer Research, 2006

Structural basis for gene activation by p53 family members.

Scoumanne A et al.

Cancer Biology & Therapy, 2005

Transcription, apoptosis and p53: catch-22.

Schuler M et al.

Trends in Genetics : Tig, 2005

The p53QS transactivation-deficient mutant shows stress-specific apoptotic activity and induces embryonic lethality.

Johnson TM et al.

Nature Genetics, 2005

p53 activation domain 1 is essential for PUMA upregulation and p53-mediated neuronal cell death.

Cregan SP et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004

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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."