Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L330H
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TP53

NM_000546.6:p.L330H

Associated Papers

TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.

Liu S et al.

Annals of Hematology, 2026

41559357 (PubMed )
Supplement: 277_2026_6771_MOESM2_ESM.xlsx › TableS3

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

High-throughput evaluation of genetic variants with prime editing sensor libraries.

Gould SI et al.

Nature Biotechnology, 2025

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

Repurposing antiparasitic antimonials to noncovalently rescue temperature-sensitive p53 mutations.

Tang Y et al.

Cell Reports, 2022

Analysis and Interpretation of the Impact of Missense Variants in Cancer.

Petrosino M et al.

International Journal of Molecular Sciences, 2021

34063805 (PubMed )
Supplement: ijms-22-05416-s001.zip › new_supplementary_file1.xlsx › new_supplementary_file1

NMR spectroscopy uncovers direct interaction between BAF60A and p53.

Han J et al.

Biochemical and Biophysical Research Communications, 2021

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_12.XLSX › Sheet1

p53 tetramerization: at the center of the dominant-negative effect of mutant p53.

Gencel-Augusto J et al.

Genes & Development, 2020

The cancer-associated, gain-of-function TP53 variant P152Lp53 activates multiple signaling pathways implicated in tumorigenesis.

Singh S et al.

The Journal of Biological Chemistry, 2019

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

Machine Learning Classification and Structure-Functional Analysis of Cancer Mutations Reveal Unique Dynamic and Network Signatures of Driver Sites in Oncogenes and Tumor Suppressor Genes.

Agajanian S et al.

Journal of Chemical Information and Modeling, 2018

Tetramer formation of tumor suppressor protein p53: Structure, function, and applications.

Kamada R et al.

Biopolymers, 2016

Structure-Based Analysis Reveals Cancer Missense Mutations Target Protein Interaction Interfaces.

Engin HB et al.

Plos One, 2016

27043210 (PubMed )
Supplement: pone.0152929.s003.xlsx › mut_effects_per_ppi

TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution.

Hou HA et al.

Blood Cancer Journal, 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

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

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.

Van Allen EM et al.

Nature Medicine, 2014

24836576 (PubMed )
Supplement: NIHMS531666-supplement-10.xlsx › Sheet1

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

Cellular adaptation to hypoxia and p53 transcription regulation.

Zhao Y et al.

Journal of Zhejiang University. Science. B, 2009

Evaluation of transcriptional activity of p53 in individual living mammalian cells.

Imagawa T et al.

Analytical Biochemistry, 2009

Noncanonical DNA motifs as transactivation targets by wild type and mutant p53.

Jordan JJ et al.

Plos Genetics, 2008

Parallel analysis of tetramerization domain mutants of the human p53 protein using PCR colonies.

Merritt J et al.

Genomic Medicine, 2007

Kinetic computational alanine scanning: application to p53 oligomerization.

Chong LT et al.

Journal of Molecular Biology, 2006

Unfolding, aggregation, and amyloid formation by the tetramerization domain from mutant p53 associated with lung cancer.

Higashimoto Y et al.

Biochemistry, 2006

The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.

Kawaguchi T et al.

Oncogene, 2005

Structure and functionality of a designed p53 dimer.

Davison TS et al.

Journal of Molecular Biology, 2001

p53 functional assays: detecting p53 mutations in both the germline and in sporadic tumours.

Camplejohn RS et al.

Cell Proliferation, 2001

Cellular characterisation of p53 mutants with a single missense mutation in the beta-strand 326-333 and correlation of their cellular activities with in vitro properties.

Chène P et al.

Journal of Molecular Biology, 1999

Characterization of p53 mutants identified in human tumors with a missense mutation in the tetramerization domain.

Rollenhagen C et al.

International Journal of Cancer, 1998

Nine hydrophobic side chains are key determinants of the thermodynamic stability and oligomerization status of tumour suppressor p53 tetramerization domain.

Mateu MG et al.

The Embo Journal, 1998

TP53 lacks tetramerization and N-terminal domains due to novel inactivating mutations detected in leukemia patients.

Hameed Y et al.

Journal of Cancer Research and Therapeutics, 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."