Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L348S
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TP53

NM_000546.6:p.L348S

Associated Papers

Identification of high-risk signatures and therapeutic targets through molecular characterization and immune profiling of TP53-mutant breast cancer.

Paulino PJIV et al.

Journal, Genetic Engineering & Biotechnology, 2025

41386839 (PubMed )
Supplement: mmc5.xlsx › Table_S3

The impact of mutations on TP53 protein and MicroRNA expression in HNSCC: Novel insights for diagnostic and therapeutic strategies.

Mahmoud AA et al.

Plos One, 2025

40333905 (PubMed )
Supplement: pone.0307859.s001.xlsx › Sheet10

Genomic heterogeneity at baseline is associated with T790M resistance mutations in EGFR-mutated lung cancer treated with the first-/second-generation tyrosine kinase inhibitors.

Menzel M et al.

The Journal of Pathology. Clinical Research, 2024

38284983 (PubMed )
Supplement: CJP2-10-e354-s001.zip › cjp2354-sup-TableS2.xlsx › Table_S2

[Lung Squamous Cell Carcinoma with EML4-ALK Fusion and TP53 Co-mutation 
Treated with Ensartinib: A Case Report and Literature Review].

Lv D et al.

Zhongguo Fei Ai Za Zhi = Chinese Journal of Lung Cancer, 2023

Identification of novel prognostic and predictive biomarkers in salivary duct carcinoma via comprehensive molecular profiling.

Kohsaka S et al.

Npj Precision Oncology, 2022

36333410 (PubMed )
Supplement: 41698_2022_324_MOESM3_ESM.xlsx › Mutations

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

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-s188.xlsx › Supplemental_Table_5.1.

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

Mechanistic insight into the destabilization of p53TD tetramer by cancer-related R337H mutation: a molecular dynamics study.

Yu Y et al.

Physical Chemistry Chemical Physics : Pccp, 2022

Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Raad S et al.

Journal of Medical Genetics, 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

The Genomic Landscape of Lobular Breast Cancer.

McCart Reed AE et al.

Cancers, 2021

33919581 (PubMed )
Supplement: cancers-13-01950-s001.zip › cancers-1163927-supplementary_tables.xlsx › Table_S1_WES

Comprehensive characterization of protein-protein interactions perturbed by disease mutations.

Cheng F et al.

Nature Genetics, 2021

First results of the EORTC-SPECTA/Arcagen study exploring the genomics of rare cancers in collaboration with the European reference network EURACAN.

Morfouace M et al.

Esmo Open, 2020

33262201 (PubMed )
Supplement: esmoopen-2020-001075supp001.pdf

p53 tetramerization: at the center of the dominant-negative effect of mutant p53.

Gencel-Augusto J et al.

Genes & Development, 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

Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Heinrich MC et al.

Clinical Sarcoma Research, 2019

Tetramer formation of tumor suppressor protein p53: Structure, function, and applications.

Kamada R et al.

Biopolymers, 2016

TP53 mutations in human cancer: database reassessment and prospects for the next decade.

Leroy B et al.

Human Mutation, 2014

24665023 (PubMed )
Supplement: supplement_1.pdf

Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

Kamada R et al.

The Journal of Biological Chemistry, 2011

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