Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.K120M
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TP53

NM_000546.6:p.K120M

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

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1

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

Investigation of Structural Mechanisms Underlying p53 Dysfunction Caused by 148 Missense Mutations Using AlphaFold3 and Molecular Dynamics Simulations.

Rustamov KR et al.

Journal of Chemical Information and Modeling, 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

The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution.

Nguyen DD et al.

Nature, 2024

39385020 (PubMed )
Supplement: 41586_2024_7955_MOESM11_ESM.xlsx › Figure_3e

Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.

Khalil SS et al.

Cureus, 2024

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

Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Wu L et al.

Nature Communications, 2022

35871175 (PubMed )
Supplement: 41467_2022_31780_MOESM6_ESM.xlsx › Supplementary_Data_4

Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.

Tam B et al.

International Journal of Molecular Sciences, 2021

34768775 (PubMed )
Supplement: ijms-22-11345-s001.zip › Supplementary_table › Supplementary_table_1.xlsx › Sheet1

Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.

Charo LM et al.

Molecular Oncology, 2021

32881280 (PubMed )
Supplement: MOL2-15-67-s001.docx

Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Hong TH et al.

Journal for Immunotherapy of Cancer, 2020

33077514 (PubMed )
Supplement: jitc-2020-001199supp002.pdf

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

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

Lee SY et al.

Oncogene, 2019

Wild-type p53 upregulates an early onset breast cancer-associated gene GAS7 to suppress metastasis via GAS7-CYFIP1-mediated signaling pathway.

Chang JW et al.

Oncogene, 2018

29706651 (PubMed )
Supplement: 41388_2018_253_MOESM1_ESM.pdf

Characterization of potential driver mutations involved in human breast cancer by computational approaches.

Rajendran BK et al.

Oncotarget, 2017

28477017 (PubMed )
Supplement: oncotarget-08-50252-s003.docx

Nutlin-3a selects for cells harbouring TP53 mutations.

Kucab JE et al.

International Journal of Cancer, 2017

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

Complex analysis of the p53 tumor suppressor in lung carcinoma.

Smardova J et al.

Oncology Reports, 2016

TP53 and lacZ mutagenesis induced by 3-nitrobenzanthrone in Xpa-deficient human TP53 knock-in mouse embryo fibroblasts.

Kucab JE et al.

Dna Repair, 2016

Detailed analysis of therapy-driven clonal evolution of TP53 mutations in chronic lymphocytic leukemia.

Malcikova J et al.

Leukemia, 2015

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

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.

Wu G et al.

Nature Genetics, 2014

24705251 (PubMed )
Supplement: NIHMS573627-supplement-1.pdf

ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Toy W et al.

Nature Genetics, 2013

24185512 (PubMed )
Supplement: NIHMS531250-supplement-2.xlsx › All_samples_N_36_

Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review.

Hu X et al.

Molecular Cytogenetics, 2012

Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival, and response to DNA damage.

Malcikova J et al.

Blood, 2009

LIM and SH3 protein 1 (Lasp1) is a novel p53 transcriptional target involved in hepatocellular carcinoma.

Wang B et al.

Journal of Hepatology, 2009

Acetylation of the p53 DNA-binding domain regulates apoptosis induction.

Sykes SM et al.

Molecular Cell, 2006

Mutation of TP53 gene is involved in carcinogenesis of hepatic undifferentiated (embryonal) sarcoma of the adult, in contrast with Wnt or telomerase pathways: an immunohistochemical study of three cases with genomic relation in two cases.

Lepreux S et al.

Journal of Hepatology, 2005

Analysis of TP53 mutation spectra reveals the fingerprint of the potent environmental carcinogen, aristolochic acid.

Hollstein M et al.

Mutation Research, 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."