Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.I50T
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TP53

NM_000546.6:p.I50T

Associated Papers

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

Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival.

van der Heiden AD et al.

Scientific Reports, 2025

39922874 (PubMed )
Supplement: 41598_2025_89245_MOESM1_ESM.xlsx › Sup_Table_S6

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

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

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

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

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.

Serebriiskii IG et al.

Npj Genomic Medicine, 2023

38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6

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_2.xlsx › BVs

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

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

Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.

Giesen N et al.

Haematologica, 2022

35045690 (PubMed )
Supplement: 2021_279360_GIESEN_TABS2_SUPPL.xlsx › somatic_small_functional_varian

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

33257846 (PubMed )
Supplement: 41418_2020_672_MOESM3_ESM.xlsx › Table_S2c

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

Role of next generation sequencing-based liquid biopsy in advanced non-small cell lung cancer patients treated with immune checkpoint inhibitors: impact of STK11, KRAS and TP53 mutations and co-mutations on outcome.

Pavan A et al.

Translational Lung Cancer Research, 2021

33569305 (PubMed )
Supplement: tlcr-10-01-202-supplementary.pdf

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2

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

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement

Associations of miR‑146aC>G, miR‑149C>T, miR‑196a2C>T and miR‑499A>G polymorphisms with brain tumors.

Lim J et al.

Oncology Reports, 2018

Prediction of acute myeloid leukaemia risk in healthy individuals.

Abelson S et al.

Nature, 2018

29988082 (PubMed )
Supplement: NIHMS77608-supplement-Supplementary_Table_2.xlsx › 2.1_DC_ARCH-PD

An extensive molecular cytogenetic characterization in high-risk chronic lymphocytic leukemia identifies karyotype aberrations and TP53 disruption as predictors of outcome and chemorefractoriness.

Rigolin GM et al.

Oncotarget, 2017

28427204 (PubMed )
Supplement: oncotarget-08-28008-s003.xlsx › Foglio1

Extensive next-generation sequencing analysis in chronic lymphocytic leukemia at diagnosis: clinical and biological correlations.

Rigolin GM et al.

Journal of Hematology & Oncology, 2016

27633522 (PubMed )
Supplement: 13045_2016_320_MOESM1_ESM.xlsx › Foglio1

Recurrent miscarriage and micro-RNA among north Indian women.

Parveen F et al.

Reproductive Sciences (thousand Oaks, Calif.), 2015

Association study of microRNA polymorphisms with risk of idiopathic recurrent spontaneous abortion in Korean women.

Jeon YJ et al.

Gene, 2012

Tumour suppressor gene TP53 mutations in atypical vascular lesions of breast skin following radiotherapy.

Santi R et al.

Histopathology, 2011

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

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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."