Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.A347V
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TP53

NM_000546.6:p.A347V

Associated Papers

Characterization of Malignant Adnexal Tumors of the Head and Neck by Targeted Analysis of Cancer Genes and Human Papillomavirus 42.

Dowell E et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2025

Digital pathology and image analysis of p53 biomarker in lymphomas using two algorithms: correlation with genotype and visual inspection.

Naik A et al.

Journal of Clinical Pathology, 2025

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

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

Genomic differences of patients with hematologic malignancies in different age groups.

Yang X et al.

Communications Biology, 2024

39643631 (PubMed )
Supplement: 42003_2024_7293_MOESM4_ESM.xlsx › Supplementarty_Table_S19

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

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

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TP53

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s188.xlsx › Supplemental_Table_5.2.

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

Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Chen S et al.

Bmc Genomics, 2022

35031014 (PubMed )
Supplement: 12864_2021_8289_MOESM1_ESM.xlsx › Table_S1

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

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

Ppp6c haploinsufficiency accelerates UV-induced BRAF(V600E)-initiated melanomagenesis.

Kanazawa K et al.

Cancer Science, 2021

Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas.

Juan Ribelles A et al.

Journal of Personalized Medicine, 2021

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

Detection of ERBB2 (HER2) Gene Amplification Events in Cell-Free DNA and Response to Anti-HER2 Agents in a Large Asian Cancer Patient Cohort.

Lee J et al.

Frontiers in Oncology, 2019

31019892 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-3.xlsx › Sheet1

Primary intracranial soft tissue sarcomas in children, adolescents, and young adults: single institution experience and review of the literature.

Maher OM et al.

Journal of Neuro-oncology, 2016

The Genetic Evolution of Melanoma from Precursor Lesions.

Shain AH et al.

The New England Journal of Medicine, 2015

26559571 (PubMed )
Supplement: nejmoa1502583_appendix_1.pdf

Mutational Analysis of BRAF Inhibitor-Associated Squamoproliferative Lesions.

Clynick B et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Nutlin-3a: A Potential Therapeutic Opportunity for TP53 Wild-Type Ovarian Carcinomas.

Crane EK et al.

Plos One, 2015

The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.

Kawaguchi T et al.

Oncogene, 2005

Genetic screening for hereditary diffuse gastric cancer.

Oliveira C et al.

Expert Review of Molecular Diagnostics, 2003

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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."