Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L130I
Back to variants list

TP53

NM_000546.6:p.L130I

Associated Papers

Detecting TP53 mutations in paired liquid and tissue biopsies from patients with high-grade serous ovarian carcinoma.

Widjaja AO et al.

International Journal of Cancer, 2026

41363274 (PubMed )
Supplement: IJC-158-2043-s001.zip › Supporting_Information.pdf

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

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM12_ESM.xlsx › Fig7b_d

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

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

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

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations

Stepwise correlation of TP53 mutations from pancreaticobiliary maljunction to gallbladder carcinoma: a retrospective study.

Kawakami S et al.

Bmc Cancer, 2021

34798839 (PubMed )
Supplement: 12885_2021_9000_MOESM2_ESM.pdf

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

A computational guided, functional validation of a novel therapeutic antibody proposes Notch signaling as a clinical relevant and druggable target in glioma.

Herrera-Rios D et al.

Scientific Reports, 2020

Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.

D'Oronzo S et al.

Scientific Reports, 2019

Mutation Profiles in Glioblastoma 3D Oncospheres Modulate Drug Efficacy.

Wilson KM et al.

Slas Technology, 2019

Somatic mutation detection using various targeted detection assays in paired samples of circulating tumor DNA, primary tumor and metastases from patients undergoing resection of colorectal liver metastases.

Beije N et al.

Molecular Oncology, 2016

Mutational Analysis of BRAF Inhibitor-Associated Squamoproliferative Lesions.

Clynick B et al.

The Journal of Molecular Diagnostics : Jmd, 2015

SEL1L SNP rs12435998, a predictor of glioblastoma survival and response to radio-chemotherapy.

Mellai M et al.

Oncotarget, 2015

25948789 (PubMed )
Supplement: oncotarget-06-12452-s001.pdf

IDH1 and IDH2 mutations, immunohistochemistry and associations in a series of brain tumors.

Mellai M et al.

Journal of Neuro-oncology, 2011

p53 in head and neck cancer: functional consequences and environmental implications of TP53 mutations.

Peltonen JK et al.

Head & Neck Oncology, 2010

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."