Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.A83V
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TP53

NM_000546.6:p.A83V

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 › TableS2

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 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

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

Emerging insights into ethnic-specific TP53 germline variants.

Fischer NW et al.

Journal of the National Cancer Institute, 2023

Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.

Bang S et al.

Cancers, 2023

37568814 (PubMed )
Supplement: cancers-15-03998-s001.zip › Supplementary_Table_S3_Gene_Panel_Information.xlsx › Somatic_variants

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

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

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

Ben-Cohen G et al.

Briefings in Bioinformatics, 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

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

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Doffe F et al.

Cell Death and Differentiation, 2021

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Wappenschmidt B et al.

Geburtshilfe Und Frauenheilkunde, 2020

Leucine rich repeat LGI family member 3: Integrative analyses reveal its prognostic association with non-small cell lung cancer.

Kim DS et al.

Oncology Letters, 2019

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

de Andrade KC et al.

Human Mutation, 2019

Systematic Analysis of Splice-Site-Creating Mutations in Cancer.

Jayasinghe RG et al.

Cell Reports, 2018

29617666 (PubMed )
Supplement: NIHMS958979-supplement-2.xlsx › All_Calls

Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Cho SY et al.

Gastroenterology, 2017

28522256 (PubMed )
Supplement: NIHMS1058936-supplement-Table_S3.xlsx › VCF

Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Bennett TM et al.

Plos One, 2017

29267365 (PubMed )
Supplement: pone.0189881.s007.xlsx › S7a._Clear__1__all

Response to angiotensin blockade with irbesartan in a patient with metastatic colorectal cancer.

Jones MR et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016

Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms.

Mackenzie R et al.

Bmc Cancer, 2015

25986173 (PubMed )
Supplement: 12885_2015_1421_MOESM1_ESM.xls › Sheet1

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

Structure, function, regulation and polymorphism and the clinical significance of human cytochrome P450 1A2.

Zhou SF et al.

Drug Metabolism Reviews, 2010

Cell cycle/apoptosis molecule expression correlates with imatinib response in patients with advanced gastrointestinal stromal tumors.

Romeo S et al.

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

Single base instability is promoted in vulvar lichen sclerosus.

Tapp RA et al.

The Journal of Investigative Dermatology, 2007

Use of TP53 reference materials to validate mutations in clinical tissue specimens by single-strand conformational polymorphism analysis.

Sunar-Reeder B et al.

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004

Coexpression of glucose transporter 1 and matrix metalloproteinase-2 in human cancers.

Ito S et al.

Journal of the National Cancer Institute, 2002

INK4a/ARF locus alterations in human non-Hodgkin's lymphomas mainly occur in tumors with wild-type p53 gene.

Pinyol M et al.

The American Journal of Pathology, 2000

Human non-Hodgkin's lymphomas overexpress a wild-type form of p53 which is a functional transcriptional activator of the cyclin-dependent kinase inhibitor p21.

Maestro R et al.

Blood, 1997

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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."