Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E2Q
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TP53

NM_000546.6:p.E2Q

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

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

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 dark side of histones: genomic organization and role of oncohistones in cancer.

Amatori S et al.

Clinical Epigenetics, 2021

Association of TP53 Codon 72 Arg>Pro Polymorphism with Breast and Lung Cancer Risk in the South Asian Population: A Meta-Analysis.

Jafrin S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2020

Genetic variation of acquired structural chromosomal aberrations.

Vodicka P et al.

Mutation Research. Genetic Toxicology and Environmental Mutagenesis, 2018

Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

Wong ESY et al.

Npj Genomic Medicine, 2016

Association between polymorphisms in apoptotic genes and susceptibility for developing breast cancer in Syrian women.

Lajin B et al.

Breast Cancer Research and Treatment, 2013

A meta-analysis of cancer risk associated with the TP53 intron 3 duplication polymorphism (rs17878362): geographic and tumor-specific effects.

Sagne C et al.

Cell Death & Disease, 2013

Association between polymorphisms in the genes for tumor suppressor protein p53 and its regulator NAD(P)H: quinone oxidoreductase 1 (NQO1) and schizophrenia in a Syrian study cohort.

Lajin B et al.

Archives of Medical Research, 2013

Alternative splicing of p53 and p73: the novel p53 splice variant p53delta is an independent prognostic marker in ovarian cancer.

Hofstetter G et al.

Oncogene, 2010

Three common TP53 polymorphisms in susceptibility to breast cancer, evidence from meta-analysis.

Hu Z et al.

Breast Cancer Research and Treatment, 2010

BCL6: somatic mutations and expression in early-stage chronic lymphocytic leukemia.

Jantus Lewintre E et al.

Leukemia & Lymphoma, 2009

Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic.

Polakova V et al.

Human Mutation, 2009

Predicting the oncogenicity of missense mutations reported in the International Agency for Cancer Research (IARC) mutation database on p53.

Gorlov IP et al.

Human Mutation, 2005

Association of p53 codon Arg72Pro and p73 G4C14-to-A4T14 at exon 2 genetic polymorphisms with the risk of Japanese breast cancer.

Huang XE et al.

Breast Cancer (tokyo, Japan), 2003

p53 mutations implicate sunlight in post-transplant skin cancer irrespective of human papillomavirus status.

McGregor JM et al.

Oncogene, 1997

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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."