Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R181L
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TP53

NM_000546.6:p.R181L

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

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 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.

Sun Zhang A et al.

Scientific Reports, 2025

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM1_ESM.pdf

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_1.xlsx › Table_S1

p53 partial loss-of-function mutations sensitize to chemotherapy.

Klimovich B et al.

Oncogene, 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

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

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Khoruddin NA et al.

Scientific Reports, 2021

34373545 (PubMed )
Supplement: 41598_2021_95618_MOESM1_ESM.xlsx › Training_Dataset

Rely on Each Other: DNA Binding Cooperativity Shapes p53 Functions in Tumor Suppression and Cancer Therapy.

Timofeev O et al.

Cancers, 2021

Residual apoptotic activity of a tumorigenic p53 mutant improves cancer therapy responses.

Timofeev O et al.

The Embo Journal, 2019

p53 defies convention again: a p53 mutant that has lost tumor suppression but still can kill.

Manfredi JJ

The Embo Journal, 2019

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

How mutations shape p53 interactions with the genome to promote tumorigenesis and drug resistance.

Stiewe T et al.

Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy, 2018

StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors.

Sen M et al.

Cancer Medicine, 2017

28371134 (PubMed )
Supplement: CAM4-6-883-s002.xlsx › S16_SAvs48-gene_test

Clinical Overview of MDM2/X-Targeted Therapies.

Burgess A et al.

Frontiers in Oncology, 2016

Structure-Based Analysis Reveals Cancer Missense Mutations Target Protein Interaction Interfaces.

Engin HB et al.

Plos One, 2016

27043210 (PubMed )
Supplement: pone.0152929.s003.xlsx › mut_effects_per_ppi

Structure-based predictions broadly link transcription factor mutations to gene expression changes in cancers.

Ashworth J et al.

Nucleic Acids Research, 2014

TP53 mutants in the tower of babel of cancer progression.

Bisio A et al.

Human Mutation, 2014

Oxidized DJ-1 inhibits p53 by sequestering p53 from promoters in a DNA-binding affinity-dependent manner.

Kato I et al.

Molecular and Cellular Biology, 2013

p53 transactivation and the impact of mutations, cofactors and small molecules using a simplified yeast-based screening system.

Andreotti V et al.

Plos One, 2011

Life or death: p53-induced apoptosis requires DNA binding cooperativity.

Schlereth K et al.

Cell Cycle (georgetown, Tex.), 2010

DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis.

Schlereth K et al.

Molecular Cell, 2010

Monocytic leukemia zinc finger (MOZ) interacts with p53 to induce p21 expression and cell-cycle arrest.

Rokudai S et al.

The Journal of Biological Chemistry, 2009

Dimerization of the core domain of the p53 family: a computational study.

Madhumalar A et al.

Cell Cycle (georgetown, Tex.), 2009

The oncogenic roles of p53 mutants in mouse models.

Lozano G

Current Opinion in Genetics & Development, 2007

Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.

Soussi T et al.

Human Mutation, 2005

A novel p53 mutant retained functional activity in lung carcinomas.

Ko JL et al.

Dna Repair, 2002

RNA polymerase III transcription can be derepressed by oncogenes or mutations that compromise p53 function in tumours and Li-Fraumeni syndrome.

Stein T et al.

Oncogene, 2002

Identification of a tumor-derived p53 mutant with novel transactivating selectivity.

Pan Y et al.

Oncogene, 2000

The requirement for the p53 proline-rich functional domain for mediation of apoptosis is correlated with specific PIG3 gene transactivation and with transcriptional repression.

Venot C et al.

The Embo Journal, 1998

A transforming p53 mutant, which binds DNA, transactivates and induces apoptosis reveals a nuclear:cytoplasmic shuttling defect.

Crook T et al.

Oncogene, 1998

Effects of p53 mutants derived from lung carcinomas on the p53-responsive element (p53RE) of the MDM2 gene.

Gorgoulis VG et al.

British Journal of Cancer, 1998

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