Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R379C
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TP53

NM_000546.6:p.R379C

Associated Papers

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM8_ESM.zip › Supp_Data_6 › S1_SNV.xlsx › s1_BRCA2

Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

Pavlova S et al.

Hemasphere, 2025

39840379 (PubMed )
Supplement: HEM3-9-e70065-s001.xlsx › Table_S5

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.

Dawood M et al.

Genome Medicine, 2024

39627863 (PubMed )
Supplement: 13073_2024_1392_MOESM1_ESM.xlsx › Table_S18

In-silico analysis of TCGA data showing multiple POLE-like favourable subgroups overlapping with TP53 mutated endometrial cancer: Implications for clinical practice in low and middle-income countries.

Das Ghosh D et al.

Gynecologic Oncology Reports, 2023

37293351 (PubMed )
Supplement: mmc2.xlsx › TP53

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_S4

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 Characterization of the Coding and Non-Coding Single Nucleotide Polymorphisms in the Tumor Protein p63 (TP63) Gene Using In Silico Tools.

Akter S et al.

Biomolecules, 2021

34827731 (PubMed )
Supplement: biomolecules-11-01733-s001.zip › biomolecules-1441232-supplementary.pdf

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

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Doffe F et al.

Cell Death and Differentiation, 2021

33257846 (PubMed )
Supplement: 41418_2020_672_MOESM3_ESM.xlsx › Table_S2c

Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.

Reder H et al.

Cancer Medicine, 2021

33527763 (PubMed )
Supplement: CAM4-10-1347-s006.pdf

Sphere-Forming Culture for Expanding Genetically Distinct Patient-Derived Glioma Stem Cells by Cellular Growth Rate Screening.

Shin K et al.

Cancers, 2020

32120790 (PubMed )
Supplement: cancers-12-00549-s001.zip › cancers-663915-Supplementary_Tables_.xlsx › Table_S3

Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Prieto-Potin I et al.

Peerj, 2020

33083132 (PubMed )
Supplement: peerj-08-10069-s009.xlsx › Table_S4

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

Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.

Wong K et al.

Nature Communications, 2019

30664638 (PubMed )
Supplement: 41467_2018_8081_MOESM5_ESM.xlsx › Canine

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

de Andrade KC et al.

Human Mutation, 2019

30352134 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_1

Genetic and chromosomal alterations in Kenyan Wilms Tumor.

Lovvorn HN et al.

Genes, Chromosomes & Cancer, 2015

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

Identification and validation of PROM1 and CRTC2 mutations in lung cancer patients.

He Y et al.

Molecular Cancer, 2014

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
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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."