Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.K120K
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TP53

NM_000546.6:p.K120K

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 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

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

Emerging insights into ethnic-specific TP53 germline variants.

Fischer NW et al.

Journal of the National Cancer Institute, 2023

Common activities and predictive gene signature identified for genetic hypomorphs of TP53.

Leung JC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

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

Druggable genomic landscapes of high-grade gliomas.

Ghanem P et al.

Frontiers in Medicine, 2023

38143440 (PubMed )
Supplement: Table_1.xlsx › ST5

Benign SNPs in the Coding Region of TP53: Finding the Needles in a Haystack of Pathogenic Variants.

Soussi T

Cancer Research, 2022

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

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

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

TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.

Terradas M et al.

Gut, 2021

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

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

An update on the central nervous system manifestations of Li-Fraumeni syndrome.

Orr BA et al.

Acta Neuropathologica, 2020

Associations among smoking, MGMT hypermethylation, TP53-mutations, and relapse in head and neck squamous cell carcinoma.

Matsuda S et al.

Plos One, 2020

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

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s005.zip › Initial_Benchmark › CharGer_and_Panel_Benchmark.xlsx › SupplTable2

CharGer: clinical Characterization of Germline variants.

Scott AD et al.

Bioinformatics (oxford, England), 2019

30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2

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

de Andrade KC et al.

Human Mutation, 2019

TP53 alterations in Wilms tumour represent progression events with strong intratumour heterogeneity that are closely linked but not limited to anaplasia.

Wegert J et al.

The Journal of Pathology. Clinical Research, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Targeted next generation sequencing of parotid gland cancer uncovers genetic heterogeneity.

Grünewald I et al.

Oncotarget, 2015

26053092 (PubMed )
Supplement: oncotarget-06-18224-s001.pdf

Homozygous deletions of UGT2B17 modifies effects of smoking on TP53-mutations and relapse of head and neck carcinoma.

Mafune A et al.

Bmc Cancer, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.

Soussi T et al.

Human Mutation, 2014

Mapping the p53 transcriptome universe using p53 natural polymorphs.

Wang B et al.

Cell Death and Differentiation, 2014

Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene.

Chitrala KN et al.

Plos One, 2014

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Association between p53 gene variants and oral cancer susceptibility in population from Gujarat, West India.

Patel KR et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

Distinct effects of alcohol consumption and smoking on genetic alterations in head and neck carcinoma.

Urashima M et al.

Plos One, 2013

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

TP53 mutations in human cancers: origins, consequences, and clinical use.

Olivier M et al.

Cold Spring Harbor Perspectives in Biology, 2010

p53 polymorphisms: cancer implications.

Whibley C et al.

Nature Reviews. Cancer, 2009

Low rates of somatic p53 mutations in keratoacanthomas.

Suk JD et al.

Journal of Dermatological Science, 2009

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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."