Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q144L
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TP53

NM_000546.6:p.Q144L

Associated Papers

TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.

Liu S et al.

Annals of Hematology, 2026

41559357 (PubMed )
Supplement: 277_2026_6771_MOESM2_ESM.xlsx › TableS3

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

In Silico Screening, Molecular Dynamics Simulation and Binding Free Energy Identify Single-Point Mutations That Destabilize p53 and Reduce Binding to DNA.

Islam SM et al.

Proteins, 2025

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM12_ESM.xlsx › Fig7b_d

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

Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.

Sini MC et al.

Journal of Translational Medicine, 2024

38280995 (PubMed )
Supplement: 12967_2024_4923_MOESM1_ESM.pdf

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

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TP53

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table2.xlsx › TP53

Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.

Tam B et al.

International Journal of Molecular Sciences, 2021

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_3.xlsx › Sheet1

Association between Predicted Effects of TP53 Missense Variants on Protein Conformation and Their Phenotypic Presentation as Li-Fraumeni Syndrome or Hereditary Breast Cancer.

Liu Y et al.

International Journal of Molecular Sciences, 2021

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Fortuno C et al.

Human Mutation, 2021

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Quinn EA et al.

Cold Spring Harbor Molecular Case Studies, 2019

30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

Transitions at CpG dinucleotides, geographic clustering of TP53 mutations and food availability patterns in colorectal cancer.

Verginelli F et al.

Plos One, 2009

19718455 (PubMed )
Supplement: pone.0006824.s006.xls › CRC-mutation_database
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