Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R290H
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TP53

NM_000546.6:p.R290H

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

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

Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.

Ahmad RM et al.

Briefings in Bioinformatics, 2025

41263939 (PubMed )
Supplement: supplementary_materials_bbaf611_1_.zip › Supplementary_materials_bbaf611 › Supplementary_Table_S8.xlsx › Sheet1

Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications.

Folta A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Clinical Significance of TP53-Mutant Clonal Hematopoiesis Across Diseases.

Usui Y et al.

Blood Cancer Discovery, 2025

40525786 (PubMed )
Supplement: bcd-24-0355_table_s2_suppst2.xlsx › Sheet1

Next-generation sequencing in the molecular classification of endometrial carcinomas: Experience with 270 cases suggesting a potentially more aggressive clinical behavior of multiple classifier endometrial carcinomas.

Michalova K et al.

Virchows Archiv : an International Journal of Pathology, 2025

Structural and mechanistic diversity in p53-mediated regulation of organismal longevity across taxonomical orders.

Osbourne R et al.

Plos Computational Biology, 2025

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

Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.

Wagner JT et al.

Frontiers in Molecular Biosciences, 2025

41158875 (PubMed )
Supplement: DataSheet1.xlsx › D

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

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4

SMARCA4-deficient central nervous system metastases: A case series and systematic review.

Morris M et al.

Journal of Neuropathology and Experimental Neurology, 2024

Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.

Tam B et al.

Briefings in Bioinformatics, 2024

39140857 (PubMed )
Supplement: table_s1_bbae400.xlsx › Sheet1

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

Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.

Khalil SS et al.

Cureus, 2024

Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.

Jambhekar A et al.

Blood Neoplasia, 2024

40453522 (PubMed )
Supplement: BNEO_NEO-2023-000115-mmc1.xlsx › AML

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5

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

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

The TP53 Codon 72 Arginine Polymorphism Is Found with Increased TP53 Somatic Mutations in HPV(-) and in an Increased Percentage among HPV(+) Norwegian HNSCC Patients.

Moe SE et al.

Biomedicines, 2023

37509476 (PubMed )
Supplement: biomedicines-11-01838-s001.zip › biomedicines-2436943-supplementary.pdf

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

Manotas MC et al.

Molecular Genetics & Genomic Medicine, 2023

Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Tam B et al.

Iscience, 2023

36879825 (PubMed )
Supplement: mmc2.xlsx › TP53

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

Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions.

Rift CV et al.

Gastrointestinal Endoscopy, 2023

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf

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

The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots.

Lazarian G et al.

Human Mutation, 2023

40225169 (PubMed )
Supplement: 4880113.f1.zip › Sup_document_formated_2023-04-12.pdf

Benign SNPs in the Coding Region of TP53: Finding the Needles in a Haystack of Pathogenic Variants.

Soussi T

Cancer Research, 2022

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective Analysis from an Institutional Molecular Tumor Board.

Tarawneh TS et al.

Cancers, 2022

36139590 (PubMed )
Supplement: cancers-14-04430-s001.zip › Tarawneh_et_al_Supplementary_Table_S5.xlsx › Alterations

Retrospective analysis of somatic mutations and clonal hematopoiesis in astronauts.

Brojakowska A et al.

Communications Biology, 2022

35978153 (PubMed )
Supplement: 42003_2022_3777_MOESM3_ESM.xlsx › Sheet1

Pediatric soft tissue neoplasms with BRAF activating mutations.

Mochel MC et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.

Cyrta J et al.

The Journal of Pathology, 2022

35220606 (PubMed )
Supplement: PATH-257-274-s001.xlsx › S3_WES_SNV-clonality

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

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Whole exome sequencing identifies the potential role of genes involved in p53 pathway in Nasopharyngeal Carcinoma from Northeast India.

Laskar S et al.

Gene, 2022

Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases.

Soussi T et al.

Frontiers in Oncology, 2022

Aberrantly Activated APOBEC3B Is Associated With Mutant p53-Driven Refractory/Relapsed Diffuse Large B-Cell Lymphoma.

Zhang X et al.

Frontiers in Immunology, 2022

Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.

Marbun VMG et al.

Plos One, 2022

TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study.

Catherwood MA et al.

Frontiers in Oncology, 2022

35837095 (PubMed )
Supplement: Table_1.xlsx › Table_1

Mismatch Repair Deficiency and Somatic Mutations in Human Sinonasal Tumors.

Hieggelke L et al.

Cancers, 2021

34885191 (PubMed )
Supplement: cancers-13-06081-s001.zip › Table_S3_Targeted_panel_sequencing_result_of_sinonasal_tumor_cohort.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."