Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.D41E
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TP53

NM_000546.6:p.D41E

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

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

Investigation of the impact of R273H and R273C mutations on the DNA binding domain of P53 protein through molecular dynamic simulation.

R HC et al.

Journal of Biomolecular Structure & Dynamics, 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

Navigating the complexity of p53-DNA binding: implications for cancer therapy.

Thayer KM et al.

Biophysical Reviews, 2024

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

Targeting p53 pathways: mechanisms, structures, and advances in therapy.

Wang H et al.

Signal Transduction and Targeted Therapy, 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

Low-frequency collective motion of DNA-binding domain defines p53 function.

Zhang G et al.

Proteins, 2022

Chemical rescue of mutant proteins in living Saccharomyces cerevisiae cells by naturally occurring small molecules.

Hassell DS et al.

G3 (bethesda, Md.), 2021

Analysis and Interpretation of the Impact of Missense Variants in Cancer.

Petrosino M et al.

International Journal of Molecular Sciences, 2021

34063805 (PubMed )
Supplement: ijms-22-05416-s001.zip › new_supplementary_file1.xlsx › new_supplementary_file1

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

Chaperones and Ubiquitin Ligases Balance Mutant p53 Protein Stability in Esophageal and Other Digestive Cancers.

Martinho MS et al.

Cellular and Molecular Gastroenterology and Hepatology, 2021

Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.

Shinwari K et al.

Thescientificworldjournal, 2021

On the complexity measures of mutation hotspots in human TP53 protein.

Ding Y et al.

Chaos (woodbury, N.y.), 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

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

Concordance between genomic alterations assessed by next-generation sequencing in tumor tissue or circulating cell-free DNA.

Chae YK et al.

Oncotarget, 2016

27588476 (PubMed )
Supplement: oncotarget-07-65364-s001.pdf

Reactivation of mutant p53: Constraints on mechanism highlighted by principal component analysis of the DNA binding domain.

Ouaray Z et al.

Proteins, 2016

TP53 mutants in the tower of babel of cancer progression.

Bisio A et al.

Human Mutation, 2014

mCSM: predicting the effects of mutations in proteins using graph-based signatures.

Pires DE et al.

Bioinformatics (oxford, England), 2014

24281696 (PubMed )
Supplement: supp_btt691_suppl.pdf

Mutant p53 and the response to chemotherapy and radiation.

Tchelebi L et al.

Sub-cellular Biochemistry, 2014

QM-MM simulations on p53-DNA complex: a study of hot spot and rescue mutants.

Koulgi S et al.

Journal of Molecular Modeling, 2013

Structural studies of p53 inactivation by DNA-contact mutations and its rescue by suppressor mutations via alternative protein-DNA interactions.

Eldar A et al.

Nucleic Acids Research, 2013

Transactivation specificity is conserved among p53 family proteins and depends on a response element sequence code.

Ciribilli Y et al.

Nucleic Acids Research, 2013

Mapping the structural and dynamical features of multiple p53 DNA binding domains: insights into loop 1 intrinsic dynamics.

Lukman S et al.

Plos One, 2013

Analysis of p53 binding to DNA by fluorescence imaging microscopy.

Ong HJ et al.

Micron (oxford, England : 1993), 2012

All-codon scanning identifies p53 cancer rescue mutations.

Baronio R et al.

Nucleic Acids Research, 2010

The tumor suppressor p53: from structures to drug discovery.

Joerger AC et al.

Cold Spring Harbor Perspectives in Biology, 2010

Mutants of the tumour suppressor p53 L1 loop as second-site suppressors for restoring DNA binding to oncogenic p53 mutations: structural and biochemical insights.

Merabet A et al.

The Biochemical Journal, 2010

20113312 (PubMed )
Supplement: supplement_1.pdf

Structural and functional implications of p53 missense cancer mutations.

Tan Y et al.

Pmc Biophysics, 2009

Structural basis of restoring sequence-specific DNA binding and transactivation to mutant p53 by suppressor mutations.

Suad O et al.

Journal of Molecular Biology, 2009

Directed evolution of p53 variants with altered DNA-binding specificities by in vitro compartmentalization.

Fen CX et al.

Journal of Molecular Biology, 2007

Structure-function-rescue: the diverse nature of common p53 cancer mutants.

Joerger AC et al.

Oncogene, 2007

Mutational analysis of the p53 core domain L1 loop.

Zupnick A et al.

The Journal of Biological Chemistry, 2006

Structures of p53 cancer mutants and mechanism of rescue by second-site suppressor mutations.

Joerger AC et al.

The Journal of Biological Chemistry, 2005

p53 mutants exhibiting enhanced transcriptional activation and altered promoter selectivity are revealed using a sensitive, yeast-based functional assay.

Inga A et al.

Oncogene, 2001

Mechanism of rescue of common p53 cancer mutations by second-site suppressor mutations.

Nikolova PV et al.

The Embo Journal, 2000

Genetic selection of intragenic suppressor mutations that reverse the effect of common p53 cancer mutations.

Brachmann RK et al.

The Embo Journal, 1998

Variations in sensitivity to ionizing radiation in relation to p53 mutation point.

Okaichi K et al.

Anticancer Research, 0

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