Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.I50F
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TP53

NM_000546.6:p.I50F

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

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

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_S8

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

Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.

Lieb V et al.

Cells, 2022

36429046 (PubMed )
Supplement: cells-11-03618-s001.zip › Suppl._files › Suppl._Table_S2_.xlsx › TP53_variants

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

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1B._Negative_Set

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 › PTEN

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › TP53_variants

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

Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.

Wilson GD et al.

Oncotarget, 2018

29899834 (PubMed )
Supplement: oncotarget-09-25957-s002.xlsx › ST1_GeneVar_Primaries

Mutational Status of CDKN2A and TP53 Genes in Laryngeal Squamous Cell Carcinoma.

Todorova TA et al.

Pathology Oncology Research : Por, 2015

Dupuytren's disease and the risk of malignant neoplasms.

Zyluk A et al.

Hereditary Cancer in Clinical Practice, 2014

Identification of MET and SRC activation in melanoma cell lines showing primary resistance to PLX4032.

Vergani E et al.

Neoplasia (new York, N.y.), 2011

Significance of CDKN2A gene A148T variant in patients with bladder cancer.

Borkowska E et al.

Central European Journal of Urology, 2011

Somatic alterations in the melanoma genome: a high-resolution array-based comparative genomic hybridization study.

Gast A et al.

Genes, Chromosomes & Cancer, 2010

Frequent alterations of p16INK4a and p14ARF in oral proliferative verrucous leukoplakia.

Kresty LA et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008

Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Peric B et al.

Bmc Medical Genetics, 2008

Methylation of the p16INK4A promoter is associated with malignant behavior in abdominal extra-adrenal paragangliomas but not pheochromocytomas.

Kiss NB et al.

Endocrine-related Cancer, 2008

Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.

Goldstein AM et al.

International Journal of Cancer, 2007

High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.

Hocevar M et al.

Croatian Medical Journal, 2006

Population-based prevalence of CDKN2A mutations in Utah melanoma families.

Eliason MJ et al.

The Journal of Investigative Dermatology, 2006

The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma.

Huber J et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2006

Genetic variation and the mitogen-activated protein kinase (MAPK) signaling pathway.

Cho S et al.

Omics : a Journal of Integrative Biology, 2006

BRAF alterations are associated with complex mutational profiles in malignant melanoma.

Daniotti M et al.

Oncogene, 2004

The TP53-ARF tumor suppressor pathway is frequently disrupted in large/cell anaplastic medulloblastoma.

Frank AJ et al.

Brain Research. Molecular Brain Research, 2004

p16(INK4a) alterations in chronic pancreatitis-indicator for high-risk lesions for pancreatic cancer.

Gerdes B et al.

Surgery, 2001

[Analysis of the involvement of the tumour suppressor genes TP53, p16INK4, p21WAF1, RB1 and the drugs metabolizing enzymes in the development of bone tumours in children].

Patiño A et al.

Anales Del Sistema Sanitario De Navarra, 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."