Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.S46A
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TP53

NM_000546.6:p.S46A

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

Phosphorylation-driven regulation of SIRT1 in muscle senescence: Insights from molecular dynamics simulation and experimental validation.

Liu S et al.

International Journal of Biological Macromolecules, 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

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

Mutant p53 in cancer: from molecular mechanism to therapeutic modulation.

Chen X et al.

Cell Death & Disease, 2022

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

ZNF498 promotes hepatocellular carcinogenesis by suppressing p53-mediated apoptosis and ferroptosis via the attenuation of p53 Ser46 phosphorylation.

Zhang X et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2022

The HIF-1α/p53/miRNA-34a/Klotho axis in retinal pigment epithelial cells promotes subretinal fibrosis and exacerbates choroidal neovascularization.

Xie L et al.

Journal of Cellular and Molecular Medicine, 2021

Crotonylation at serine 46 impairs p53 activity.

Liao P et al.

Biochemical and Biophysical Research Communications, 2020

Cell Fate Regulation upon DNA Damage: p53 Serine 46 Kinases Pave the Cell Death Road.

Liebl MC et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental 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

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

Role of p53 and transcription-independent p53-induced apoptosis in shear-stimulated megakaryocytic maturation, particle generation, and platelet biogenesis.

Luff SA et al.

Plos One, 2018

p53 Loses grip on PIK3CA expression leading to enhanced cell survival during platinum resistance.

Thakur B et al.

Molecular Oncology, 2016

An African-specific polymorphism in the TP53 gene impairs p53 tumor suppressor function in a mouse model.

Jennis M et al.

Genes & Development, 2016

Complex regulation of CREB-binding protein by homeodomain-interacting protein kinase 2.

Kovács KA et al.

Cellular Signalling, 2015

Pin1-Induced Proline Isomerization in Cytosolic p53 Mediates BAX Activation and Apoptosis.

Follis AV et al.

Molecular Cell, 2015

Che-1 modulates the decision between cell cycle arrest and apoptosis by its binding to p53.

Desantis A et al.

Cell Death & Disease, 2015

Mutant TP53 posttranslational modifications: challenges and opportunities.

Nguyen TA et al.

Human Mutation, 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

Drugging the p53 pathway: understanding the route to clinical efficacy.

Khoo KH et al.

Nature Reviews. Drug Discovery, 2014

A new p53 target gene, RKIP, is essential for DNA damage-induced cellular senescence and suppression of ERK activation.

Lee SJ et al.

Neoplasia (new York, N.y.), 2013

DNA-PK, ATM and ATR collaboratively regulate p53-RPA interaction to facilitate homologous recombination DNA repair.

Serrano MA et al.

Oncogene, 2013

The prolyl-isomerase Pin1 activates the mitochondrial death program of p53.

Sorrentino G et al.

Cell Death and Differentiation, 2013

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

Jenkins LM et al.

Carcinogenesis, 2012

Context-dependent enhancement of induced pluripotent stem cell reprogramming by silencing Puma.

Lake BB et al.

Stem Cells (dayton, Ohio), 2012

Phosphorylation of p53 modifies sensitivity to ionizing radiation.

Okaichi K et al.

Anticancer Research, 2011

Role of the SUMO-interacting motif in HIPK2 targeting to the PML nuclear bodies and regulation of p53.

Sung KS et al.

Experimental Cell Research, 2011

Understanding wild-type and mutant p53 activities in human cancer: new landmarks on the way to targeted therapies.

Goldstein I et al.

Cancer Gene Therapy, 2011

MYCN sensitizes human neuroblastoma to apoptosis by HIPK2 activation through a DNA damage response.

Petroni M et al.

Molecular Cancer Research : Mcr, 2011

p53 post-translational modification: deregulated in tumorigenesis.

Dai C et al.

Trends in Molecular Medicine, 2010

ATM augments nuclear stabilization of DYRK2 by inhibiting MDM2 in the apoptotic response to DNA damage.

Taira N et al.

The Journal of Biological Chemistry, 2010

Axin determines cell fate by controlling the p53 activation threshold after DNA damage.

Li Q et al.

Nature Cell Biology, 2009

Cooperativity dominates the genomic organization of p53-response elements: a mechanistic view.

Pan Y et al.

Plos Computational Biology, 2009

Activation of NFAT signal by p53-K120R mutant.

Shinmen N et al.

Febs Letters, 2009

Monocytic leukemia zinc finger (MOZ) interacts with p53 to induce p21 expression and cell-cycle arrest.

Rokudai S et al.

The Journal of Biological Chemistry, 2009

Blocking of p53-Snail binding, promoted by oncogenic K-Ras, recovers p53 expression and function.

Lee SH et al.

Neoplasia (new York, N.y.), 2009

PP2A regulates ionizing radiation-induced apoptosis through Ser46 phosphorylation of p53.

Mi J et al.

Molecular Cancer Therapeutics, 2009

How important are post-translational modifications in p53 for selectivity in target-gene transcription and tumour suppression?

Olsson A et al.

Cell Death and Differentiation, 2007

DYRK2 is targeted to the nucleus and controls p53 via Ser46 phosphorylation in the apoptotic response to DNA damage.

Taira N et al.

Molecular Cell, 2007

Regulation of cyclin-dependent kinase 5 and p53 by ERK1/2 pathway in the DNA damage-induced neuronal death.

Lee JH et al.

Journal of Cellular Physiology, 2007

Ser46 phosphorylation regulates p53-dependent apoptosis and replicative senescence.

Feng L et al.

Cell Cycle (georgetown, Tex.), 2006

Protein kinase C delta regulates Ser46 phosphorylation of p53 tumor suppressor in the apoptotic response to DNA damage.

Yoshida K et al.

The Journal of Biological Chemistry, 2006

Defect in serine 46 phosphorylation of p53 contributes to acquisition of p53 resistance in oral squamous cell carcinoma cells.

Ichwan SJ et al.

Oncogene, 2006

Structural basis for gene activation by p53 family members.

Scoumanne A et al.

Cancer Biology & Therapy, 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."