Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E68K
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TP53

NM_000546.6:p.E68K

Associated Papers

High-efficiency TadA cytosine base editors for precise modelling of human disease variants.

Qin W et al.

Nature Biomedical Engineering, 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

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

Upstream stimulating factor 1 (USF1) -202 G/A polymorphism and serum levels of USF1 and USF2 are associated with gastric cancer risk: a case control study.

Bounder G et al.

Journal of Cancer Research and Clinical Oncology, 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

The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution.

Nguyen DD et al.

Nature, 2024

39385020 (PubMed )
Supplement: 41586_2024_7955_MOESM11_ESM.xlsx › Figure_3e

TP53 mutation status and consensus molecular subtypes of colorectal cancer in patients from Rwanda.

Nzitakera A et al.

Bmc Cancer, 2024

Histological and Genetic Diversity in Ovarian Mucinous Carcinomas: A Pilot Study.

Razia S et al.

Current Oncology (toronto, Ont.), 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

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.

Wilson GD et al.

Oncotarget, 2018

29899834 (PubMed )
Supplement: oncotarget-09-25957-s003.xlsx › ST2_GeneVar_Mets

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline

Targeted and exome sequencing identified somatic mutations in hepatocellular carcinoma.

Hirotsu Y et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2016

26850916 (PubMed )
Supplement: supplement_1.xlsx › Table_S4

Glucose-6-phosphate dehydrogenase--beyond the realm of red cell biology.

Ho HY et al.

Free Radical Research, 2014

Polarity gene alterations in pure invasive micropapillary carcinomas of the breast.

Gruel N et al.

Breast Cancer Research : Bcr, 2014

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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."