Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.D208Y
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TP53

NM_000546.6:p.D208Y

Associated Papers

Altered expression and mutations in cell cycle genes CCND1, CDK4, CDKN2B and TP53 are associated with Pakistani breast cancer patients.

Tariq W et al.

Molecular Biology Reports, 2026

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.

Fortuno C et al.

Hgg Advances, 2025

40696762 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_3

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

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.

Canson DM et al.

Npj Genomic Medicine, 2025

Resectable Non-Small Cell Lung Cancer Heterogeneity and Recurrence Assessed by Tissue Next-Generation Sequencing Genotyping and Circulating Tumor Cell EZH2 Characterization.

Garcia-Diaz A et al.

Archivos De Bronconeumologia, 2025

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM5_ESM.xlsx › SuppFig6

Decreased mitochondrial transcription factor A and mitochondrial DNA copy number promote cyclin-dependent kinase inhibitor 1A expression and reduce tumorigenic properties of colorectal cancer cells.

Buchwaldt J et al.

Discover Oncology, 2024

39580766 (PubMed )
Supplement: 12672_2024_1538_MOESM2_ESM.xlsx › S4_Classification_of_SW480

Skin Cancer Risk Is Increased by Somatic Mutations Detected Noninvasively in Healthy-Appearing Sun-Exposed Skin.

Kaur K et al.

The Journal of Investigative Dermatology, 2024

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TP53

Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.

Tam B et al.

Briefings in Bioinformatics, 2024

39140857 (PubMed )
Supplement: table_s1_bbae400.xlsx › Sheet1

Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.

Khalil SS et al.

Cureus, 2024

Subclonal TP53 mutations are frequent and predict resistance to radioimmunotherapy in follicular lymphoma.

Burack WR et al.

Blood Advances, 2023

37379264 (PubMed )
Supplement: BLOODA_ADV-2022-009467-mmc1.pdf

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 Assessment of Blitz Nevi Suggests Classification as a Subset of Blue Nevus Rather Than Spitz Nevus: Clinical, Histopathologic, and Molecular Analysis of 18 Cases.

Isales MC et al.

The American Journal of Dermatopathology, 2018

Mutational profiling of kinases in glioblastoma.

Bleeker FE et al.

Bmc Cancer, 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."