Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.A347T
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TP53

NM_000546.6:p.A347T

Associated Papers

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

Jansche R et al.

Cell Death & Disease, 2026

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

High-throughput evaluation of genetic variants with prime editing sensor libraries.

Gould SI et al.

Nature Biotechnology, 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

Implementing Massive Parallel Sequencing into Biliary Samples Obtained through Endoscopic Retrograde Cholangiopancreatography for Diagnosing Malignant Bile Duct Strictures.

Park W et al.

International Journal of Molecular Sciences, 2024

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TP53

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

Khalil SS et al.

Cureus, 2024

Li-Fraumeni Syndrome-Associated Dimer-Forming Mutant p53 Promotes Transactivation-Independent Mitochondrial Cell Death.

Choe JH et al.

Cancer Discovery, 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

Clinicopathologic Characteristics and Outcomes for Patients With KRAS G12D-Mutant NSCLC.

Cooper AJ et al.

Jto Clinical and Research Reports, 2022

36118132 (PubMed )
Supplement: mmc2.docx

Targeted therapy with anlotinib for a H3K27M mutation diffuse midline glioma patient with PDGFR-α mutation: a case report.

Wang Q et al.

Acta Neurochirurgica, 2022

Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Burkhardt B et al.

Nature Communications, 2022

Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.

Kuang S et al.

Current Oncology (toronto, Ont.), 2022

35877212 (PubMed )
Supplement: curroncol-29-00352-s001.zip › LUNGS1_16_june_2022_supplemental_2_variants_no_code.pdf

Mutual exclusivity of ESR1 and TP53 mutations in endocrine resistant metastatic breast cancer.

Li Z et al.

Npj Breast Cancer, 2022

35538119 (PubMed )
Supplement: 41523_2022_426_MOESM1_ESM.pdf

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

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

Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients.

Siraj AK et al.

Hereditary Cancer in Clinical Practice, 2021

The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.

Deek MP et al.

European Urology, 2021

33419682 (PubMed )
Supplement: NIHMS1793749-supplement-20.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

A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.

Pappula AL et al.

Cancers, 2021

34503108 (PubMed )
Supplement: cancers-13-04299-s001.zip › Supplemental_Tables_final.xlsx › Table_S10

Analysis and Interpretation of the Impact of Missense Variants in Cancer.

Petrosino M et al.

International Journal of Molecular Sciences, 2021

34063805 (PubMed )
Supplement: ijms-22-05416-s001.zip › new_supplementary_file1.xlsx › new_supplementary_file1

The genetic landscape of choroid plexus tumors in children and adults.

Thomas C et al.

Neuro-oncology, 2021

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

p53 tetramerization: at the center of the dominant-negative effect of mutant p53.

Gencel-Augusto J et al.

Genes & Development, 2020

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

BRAF AMP Frequently Co-occurs With IDH1/2, TP53, and ATRX Mutations in Adult Patients With Gliomas and Is Associated With Poorer Survival Than That of Patients Harboring BRAF V600E.

Da R et al.

Frontiers in Oncology, 2020

33489866 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.

Coco S et al.

Cancers, 2019

30925779 (PubMed )
Supplement: cancers-11-00441-s001.zip › cancers-452240-Supplementary › Table_S3.xlsx › Table_S3

Wild-type and cancer-related p53 proteins are preferentially degraded by MDM2 as dimers rather than tetramers.

Katz C et al.

Genes & Development, 2018

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Viel A et al.

Ebiomedicine, 2017

28551381 (PubMed )
Supplement: mmc7.pdf

Drug-sensitive FGFR3 mutations in lung adenocarcinoma.

Chandrani P et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017

27998968 (PubMed )
Supplement: mdw636_supp.zip › Chandrani_et_al._suppl_tables_20161110.xlsx › S3.Variants

Mantle cell lymphoma-variant Richter syndrome: Detailed molecular-cytogenetic and backtracking analysis reveals slow evolution of a pre-MCL clone in parallel with CLL over several years.

Klener P et al.

International Journal of Cancer, 2016

Tetramer formation of tumor suppressor protein p53: Structure, function, and applications.

Kamada R et al.

Biopolymers, 2016

Circulating Cell-Free Tumor DNA Analysis of 50 Genes by Next-Generation Sequencing in the Prospective MOSCATO Trial.

Jovelet C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

26758560 (PubMed )
Supplement: 10780432ccr152470-sup-156650_1_supp_3254814_ny79rd.xlsx › AF_T-P

Genetic alterations of triple negative breast cancer by targeted next-generation sequencing and correlation with tumor morphology.

Weisman PS et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016

26939876 (PubMed )
Supplement: NIHMS752475-supplement-3.xlsx › Supplementary_Table_3

TP53 mutations in human cancer: database reassessment and prospects for the next decade.

Leroy B et al.

Human Mutation, 2014

24665023 (PubMed )
Supplement: supplement_1.pdf

ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Toy W et al.

Nature Genetics, 2013

24185512 (PubMed )
Supplement: NIHMS531250-supplement-2.xlsx › All_samples_N_36_

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

Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma.

Kannan K et al.

Oncotarget, 2012

23104868 (PubMed )
Supplement: oncotarget-03-1194-s001.pdf

Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

Kamada R et al.

The Journal of Biological Chemistry, 2011

Ethnic differences and functional analysis of MET mutations in lung cancer.

Krishnaswamy S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009

Evaluation of transcriptional activity of p53 in individual living mammalian cells.

Imagawa T et al.

Analytical Biochemistry, 2009

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

Kawaguchi T et al.

Oncogene, 2005

Molecular genetics and diversity of choroid plexus tumors.

Thomas C et al.

Neuro-oncology Advances, 0

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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."