Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P47S
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TP53

NM_000546.6:p.P47S

Associated Papers

Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification.

Jansche R et al.

Cell Death & Disease, 2026

Integrative Computational Analysis of TP53 Exon 5-6 Mutations in Oral Cavity, Prostate, and Breast Cancers in a Senegalese Population.

Mbaye M et al.

Genes, 2026

The TP53 gene contains a diversity box that makes it more than a tumor suppressor.

Levine AJ et al.

Cell Death and Differentiation, 2026

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM2_ESM.xlsx › cfDNA_Variants

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.

Montellier E et al.

Ebiomedicine, 2026

41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.

Fortuno C et al.

Genome Medicine, 2025

41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM2_ESM.xlsx › Table_S2

TP53 P72R Polymorphism Is Associated With P53 Protein Expression in Fatal Prostate Cancer: A Novel Case Report and Review of the Literature.

Asili P et al.

Cureus, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Association of epilepsy and neurological impairments with homozygous recessive missense mutations found in the genes responsible for ganglioside biosynthesis (ST3GAL5) and calcium voltage-gated channels (CACNA1H) - insights through molecular dynamic simulations.

Abid R et al.

Journal of Biomolecular Structure & Dynamics, 2025

The TP53 tumor suppressor gene: From molecular biology to clinical investigations.

Baliakas P et al.

Journal of Internal Medicine, 2025

A comprehensive database for identifying and interpreting ctDNA driver genes and variants in cancer.

Wang Y et al.

Scientific Data, 2025

40670358 (PubMed )
Supplement: 41597_2025_5550_MOESM2_ESM.pdf

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_FANCC

Ferroptosis: A Targetable Vulnerability for Melanoma Treatment.

Meng Y et al.

The Journal of Investigative Dermatology, 2025

Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.

Zhang T et al.

Biorxiv : the Preprint Server for Biology, 2025

40161734 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_4

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Montellier E et al.

Iscience, 2024

39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

Current insights and future directions of Li-Fraumeni syndrome.

Hosseini MS

Discover Oncology, 2024

TP53 Y220C mutations in patients with myeloid malignancies.

Gener-Ricos G et al.

Leukemia & Lymphoma, 2024

38856690 (PubMed )
Supplement: supplement_1.pdf

Molecular insights into TP53 mutation (p. Arg267Trp) and its connection to Choroid Plexus Carcinomas and Li-Fraumeni Syndrome.

Abduljaleel Z

Genes & Genomics, 2024

The genomic landscape of lung cancer in never-smokers from the Women's Health Initiative.

Moorthi S et al.

Jci Insight, 2024

39052387 (PubMed )
Supplement: jciinsight-9-174643-s252.xlsx › Table_S3

ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update.

Malcikova J et al.

Leukemia, 2024

38755420 (PubMed )
Supplement: 41375_2024_2267_MOESM1_ESM.pdf

Pharmacological reactivation of p53 in the era of precision anticancer medicine.

Tuval A et al.

Nature Reviews. Clinical Oncology, 2024

BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer.

Richau CS et al.

Cancer Medicine, 2024

38308422 (PubMed )
Supplement: CAM4-13-e6729-s006.xlsx › Germline_DC_VAF_TR

Exploring the genetic and molecular basis of differences in multiple myeloma of individuals of African and European descent.

Levine AJ et al.

Cell Death and Differentiation, 2024

Expanding Roles of the E2F-RB-p53 Pathway in Tumor Suppression.

Zhou Y et al.

Biology, 2023

Emerging insights into ethnic-specific TP53 germline variants.

Fischer NW et al.

Journal of the National Cancer Institute, 2023

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

Neither the African-Centric S47 Nor P72 Variant of TP53 Is Associated With Reduced Risk of Febrile Malaria in a Malian Cohort Study.

Bhardwaj J et al.

The Journal of Infectious Diseases, 2023

An African-Specific Variant of TP53 Reveals PADI4 as a Regulator of p53-Mediated Tumor Suppression.

Indeglia A et al.

Cancer Discovery, 2023

Identifying p53 Target Genes Using Hypomorphic Variants.

Bhatta B et al.

Cancer Discovery, 2023

The African-centric P47S Variant of TP53 Confers Immune Dysregulation and Impaired Response to Immune Checkpoint Inhibition.

Stieg DC et al.

Cancer Research Communications, 2023

Association of TP53 Single Nucleotide Polymorphisms with Prostate Cancer in a Racially Diverse Cohort of Men.

Duncan A et al.

Biomedicines, 2023

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_S1

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST12-TP53

Evaluating Germline Testing Panels in Southern African Males With Advanced Prostate Cancer.

Gheybi K et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2023

Common activities and predictive gene signature identified for genetic hypomorphs of TP53.

Leung JC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

Ansari-Pour N et al.

Blood, 2023

36223594 (PubMed )
Supplement: BLOOD_BLD-2022-017010-mmc2.xlsx › Supplementary_Table_S2

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

Transcription-independent functions of p53 in DNA repair pathway selection.

Wang YH et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

PLTP is a p53 target gene with roles in cancer growth suppression and ferroptosis.

Gnanapradeepan K et al.

The Journal of Biological Chemistry, 2022

Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Matta BP et al.

Scientific Reports, 2022

36329109 (PubMed )
Supplement: 41598_2022_23012_MOESM2_ESM.xlsx › Supplementary_Table_S2_
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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."