Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q100H
Back to variants list

TP53

NM_000546.6:p.Q100H

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

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S7

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

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s185.xlsx › Supplemental_Table_2.2.

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

Molecular Barcode Sequencing for Highly Sensitive Detection of Circulating Tumor DNA in Patients with Esophageal Squamous Cell Carcinoma.

Hagi T et al.

Oncology, 2020

Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance.

Bukovac A et al.

Molecular and Clinical Oncology, 2019

Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.

Liao Y et al.

Cancer Medicine, 2019

31369215 (PubMed )
Supplement: CAM4-8-5673-s008.xlsx › Supplementary_Table_S5

Intratumor heterogeneity comparison among different subtypes of non-small-cell lung cancer through multi-region tissue and matched ctDNA sequencing.

Zhang Y et al.

Molecular Cancer, 2019

30626401 (PubMed )
Supplement: 12943_2019_939_MOESM10_ESM.xlsx › Dataset_2
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."