Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.C229R
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TP53

NM_000546.6:p.C229R

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

Comparative genomic analysis of multiple mammary tumors from a single dog: whole-genome sequencing study.

Kim K et al.

Irish Veterinary Journal, 2025

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

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

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

Impact of TP53 gene variants on prognosis and survival of childhood acute lymphoblastic leukemia.

Firtina S et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2023

Assessments of TP53 and CTNNB1 gene hotspot mutations in circulating tumour DNA of hepatitis B virus-induced hepatocellular carcinoma.

Kumar S et al.

Frontiers in Genetics, 2023

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

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

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

Raad S et al.

Journal of Medical Genetics, 2021

33051313 (PubMed )
Supplement: jmedgenet-2020-107059supp002.pdf

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

The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.

Fierheller CT et al.

Cancers, 2021

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

A common polymorphism in the retinoic acid pathway modifies adrenocortical carcinoma age-dependent incidence.

Surakhy M et al.

British Journal of Cancer, 2020

32147670 (PubMed )
Supplement: 41416_2020_764_MOESM1_ESM.docx

Combining Ramachandran plot and molecular dynamics simulation for structural-based variant classification: Using TP53 variants as model.

Tam B et al.

Computational and Structural Biotechnology Journal, 2020

33363700 (PubMed )
Supplement: mmc1.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

DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.

Mithraprabhu S et al.

Cancers, 2019

31261969 (PubMed )
Supplement: cancers-11-00917-s001.xlsx › TAS_results_n_36__31_RR__5_ND_

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

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

de Andrade KC et al.

Human Mutation, 2019

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Zerdoumi Y et al.

Human Molecular Genetics, 2017

Prevalence and coexistence of KRAS, BRAF, PIK3CA, NRAS, TP53, and APC mutations in Indian colorectal cancer patients: Next-generation sequencing-based cohort study.

Jauhri M et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2017

Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility.

Samuel N et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016

Germline TP53 mutational spectrum in French Canadians with breast cancer.

Arcand SL et al.

Bmc Medical Genetics, 2015

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC
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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."