Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L22Q
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TP53

NM_000546.6:p.L22Q

Associated Papers

Loss of p53 Provokes NF-κB-Dependent Disruption of Nucleolar Cap and Nucleoplasmic Redistribution of Fibrillarin During Nucleolar Stress.

Torii T et al.

Biomolecules, 2026

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 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

NEAT1 repression by MED12 creates chemosensitivity in p53 wild-type breast cancer cells.

Zhang S et al.

The Febs Journal, 2024

The importance of protein domain mutations in cancer therapy.

Chitluri KK et al.

Heliyon, 2024

Targeting the p53 signaling pathway in cancers: Molecular mechanisms and clinical studies.

Shen J et al.

Medcomm, 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

Different hotspot p53 mutants exert distinct phenotypes and predict outcome of colorectal cancer patients.

Hassin O et al.

Nature Communications, 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

Opposing Roles of Wild-type and Mutant p53 in the Process of Epithelial to Mesenchymal Transition.

Semenov O et al.

Frontiers in Molecular Biosciences, 2022

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

Alexander KA et al.

Molecular Cell, 2021

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

Vaughan CA et al.

Nature Communications, 2021

33514736 (PubMed )
Supplement: 41467_2021_20928_MOESM1_ESM.pdf

Multiple biochemical properties of the p53 molecule contribute to activation of polymerase iota-dependent DNA damage tolerance.

Biber S et al.

Nucleic Acids Research, 2020

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Popp B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32612247 (PubMed )
Supplement: 41379_2020_596_MOESM3_ESM.pdf

The Tumor Suppressor, p53, Negatively Regulates Non-Canonical NF-κB Signaling through miRNAInduced Silencing of NF-κB-Inducing Kinase.

Jang H et al.

Molecules and Cells, 2020

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

IFN-gamma-induced PD-L1 expression in melanoma depends on p53 expression.

Thiem A et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

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

Bargonetti J et al.

Journal of Molecular Cell Biology, 2019

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

Nuclear p53-mediated repression of autophagy involves PINK1 transcriptional down-regulation.

Goiran T et al.

Cell Death and Differentiation, 2018

Histone modifications affect differential regulation of TGFβ- induced NADPH oxidase 4 (NOX4) by wild-type and mutant p53.

Boudreau HE et al.

Oncotarget, 2017

Mutant p53 establishes targetable tumor dependency by promoting unscheduled replication.

Singh S et al.

The Journal of Clinical Investigation, 2017

TBP-like Protein (TLP) Disrupts the p53-MDM2 Interaction and Induces Long-lasting p53 Activation.

Maeda R et al.

The Journal of Biological Chemistry, 2017

Transcriptional Regulation by Wild-Type and Cancer-Related Mutant Forms of p53.

Pfister NT et al.

Cold Spring Harbor Perspectives in Medicine, 2017

The Transactivation Domains of the p53 Protein.

Raj N et al.

Cold Spring Harbor Perspectives in Medicine, 2017

Addiction of lung cancer cells to GOF p53 is promoted by up-regulation of epidermal growth factor receptor through multiple contacts with p53 transactivation domain and promoter.

Vaughan CA et al.

Oncotarget, 2016

Alterations in Mitochondrial and Endoplasmic Reticulum Signaling by p53 Mutants.

Giorgi C et al.

Frontiers in Oncology, 2016

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

Piskacek M et al.

Molecular Biosystems, 2015

Critical role for p53-serine 15 phosphorylation in stimulating transactivation at p53-responsive promoters.

Loughery J et al.

Nucleic Acids Research, 2014

TP53 mutants in the tower of babel of cancer progression.

Bisio A et al.

Human Mutation, 2014

Mutant p53 and the response to chemotherapy and radiation.

Tchelebi L et al.

Sub-cellular Biochemistry, 2014

Negative regulation of p53 by Ras superfamily protein RBEL1A.

Lui K et al.

Journal of Cell Science, 2013

p53 modulates homologous recombination at I-SceI-induced double-strand breaks through cell-cycle regulation.

Rieckmann T et al.

Oncogene, 2013

Competitive binding between dynamic p53 transactivation subdomains to human MDM2 protein: implications for regulating the p53·MDM2/MDMX interaction.

Shan B et al.

The Journal of Biological Chemistry, 2012

Various p53 mutant proteins differently regulate the Ras circuit to induce a cancer-related gene signature.

Solomon H et al.

Journal of Cell Science, 2012

Gain-of-Function Activity of Mutant p53 in Lung Cancer through Up-Regulation of Receptor Protein Tyrosine Kinase Axl.

Vaughan CA et al.

Genes & Cancer, 2012

Mutant p53: one name, many proteins.

Freed-Pastor WA et al.

Genes & Development, 2012

Gain-of-function mutant p53 upregulates CXC chemokines and enhances cell migration.

Yeudall WA et al.

Carcinogenesis, 2012

Mutant p53 disrupts mammary tissue architecture via the mevalonate pathway.

Freed-Pastor WA et al.

Cell, 2012

Upregulation of the mitochondrial transport protein, Tim50, by mutant p53 contributes to cell growth and chemoresistance.

Sankala H et al.

Archives of Biochemistry and Biophysics, 2011

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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."