Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.V122A
Back to variants list

TP53

NM_000546.6:p.V122A

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

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.

Fortuno C et al.

Hgg Advances, 2025

40696762 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_3

Investigation of the impact of R273H and R273C mutations on the DNA binding domain of P53 protein through molecular dynamic simulation.

R HC et al.

Journal of Biomolecular Structure & Dynamics, 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

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

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

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

Somatic inactivating PTPRJ mutations and dysregulated pathways identified in canine malignant melanoma by integrated comparative genomic analysis.

Hendricks WPD et al.

Plos Genetics, 2018

30188888 (PubMed )
Supplement: pgen.1007589.s022.xls › TableS12.tsv

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

Ligand dependent restoration of human TLR3 signaling and death in p53 mutant cells.

Menendez D et al.

Oncotarget, 2016

27533082 (PubMed )
Supplement: oncotarget-07-61630-s001.pdf

Accumulation of somatic mutations in TP53 in gastric epithelium with Helicobacter pylori infection.

Shimizu T et al.

Gastroenterology, 2014

TP53 mutants in the tower of babel of cancer progression.

Bisio A et al.

Human Mutation, 2014

Novel simplified yeast-based assays of regulators of p53-MDMX interaction and p53 transcriptional activity.

Leão M et al.

The Febs Journal, 2013

p53 regulates biosynthesis through direct inactivation of glucose-6-phosphate dehydrogenase.

Jiang P et al.

Nature Cell Biology, 2011

Mutational analysis of the p53 core domain L1 loop.

Zupnick A et al.

The Journal of Biological Chemistry, 2006

Novel human p53 mutations that are toxic to yeast can enhance transactivation of specific promoters and reactivate tumor p53 mutants.

Inga A et al.

Oncogene, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."