Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.N210Y
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TP53

NM_000546.6:p.N210Y

Associated Papers

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

40341019 (PubMed )
Supplement: 41525_2025_498_MOESM2_ESM.xlsx › Data_S2

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

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

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

34768775 (PubMed )
Supplement: ijms-22-11345-s001.zip › Supplementary_table › Supplementary_table_1.xlsx › Sheet1

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

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

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

Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

Monti P et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2007

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.

Petitjean A et al.

Human Mutation, 2007

TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes.

Petitjean A et al.

Oncogene, 2007

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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."