Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.K120N
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TP53

NM_000546.6:p.K120N

Associated Papers

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2026

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

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

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

Clinicopathologic and Molecular Characterization of Basal Cell Carcinoma Arising at Sun-protected Sites.

Draper E et al.

The American Journal of Surgical Pathology, 2025

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

Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.

Tam B et al.

Briefings in Bioinformatics, 2024

39140857 (PubMed )
Supplement: table_s1_bbae400.xlsx › Sheet1

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

Profile of esophageal squamous cell carcinoma mutations in Brazilian patients.

Munari FF et al.

Scientific Reports, 2021

The dynamic landscape of BRCA1 reversion mutations from indel to SNV in a patient with ovarian cancer treated with PARP-inhibitors and immunotherapy.

Jacob SL et al.

Heliyon, 2020

32420470 (PubMed )
Supplement: mmc1.pdf

K120R mutation inactivates p53 by creating an aberrant splice site leading to nonsense-mediated mRNA decay.

Lee SY et al.

Oncogene, 2019

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

A rare DNA contact mutation in cancer confers p53 gain-of-function and tumor cell survival via TNFAIP8 induction.

Monteith JA et al.

Molecular Oncology, 2016

Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery.

Hudson AM et al.

Cancer Research, 2014

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

Discrimination of DNA binding sites by mutant p53 proteins.

Thukral SK et al.

Molecular and Cellular Biology, 1995

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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."