Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.C275W
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TP53

NM_000546.6:p.C275W

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

A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.

Shi Y et al.

Signal Transduction and Targeted Therapy, 2025

41326340 (PubMed )
Supplement: 41392_2025_2481_MOESM1_ESM.docx

Undifferentiated embryonal sarcoma of the liver: A clinicopathological and genomic study of 10 cases from a single institution.

Zamiara P et al.

Human Pathology, 2025

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

Gould SI et al.

Nature Biotechnology, 2025

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

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S2

Deep targeted sequencing of circulating tumor DNA to inform treatment in patients with metastatic castration-resistant prostate cancer.

Nørgaard M et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2025

40229848 (PubMed )
Supplement: 13046_2025_3356_MOESM1_ESM.zip › Supplementary_Materials › Supplementary_Figures.pdf

Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.

Li J et al.

Discover Oncology, 2025

40053265 (PubMed )
Supplement: 12672_2025_2008_MOESM1_ESM.xlsx › Table_S2

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM5_ESM.xlsx › SuppFig6

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S1

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

Khalil SS et al.

Cureus, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S4

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › PVs

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

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_S4

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_6.xlsx › Comprehensive_panel

Characterization of driver mutations in Chinese non-small cell lung cancer patients using a novel targeted sequencing panel.

Zhao J et al.

Journal of Thoracic Disease, 2022

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TP53

Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Huang F et al.

Scientific Reports, 2022

35688842 (PubMed )
Supplement: 41598_2022_13391_MOESM5_ESM.xlsx › NGS_data

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s188.xlsx › Supplemental_Table_5.1.

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

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1A._Positive_Set

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

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_15.xlsx › Sheet1

Molecular heterogeneity of pancreatic intraductal papillary mucinous neoplasms and implications for novel endoscopic tissue sampling strategies.

Rift CV et al.

Journal of Clinical Pathology, 2021

A thiol-bound drug reservoir enhances APR-246-induced mutant p53 tumor cell death.

Ceder S et al.

Embo Molecular Medicine, 2021

33314700 (PubMed )
Supplement: EMMM-13-e10852-s001.pdf

Tumor DNA Mutations From Intraparenchymal Brain Metastases Are Detectable in CSF.

Cheok SK et al.

Jco Precision Oncology, 2021

Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients.

Kwong A et al.

Bmc Cancer, 2020

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Quinn EA et al.

Cold Spring Harbor Molecular Case Studies, 2019

30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar

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

Genetic variations in triple-negative breast cancers undergoing neo-adjuvant chemotherapy.

Mori M et al.

Cancer Drug Resistance (alhambra, Calif.), 2019

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

Distribution bias analysis of germline and somatic single-nucleotide variations that impact protein functional site and neighboring amino acids.

Pan Y et al.

Scientific Reports, 2017

Identification of Circulating Tumor DNA for the Early Detection of Small-cell Lung Cancer.

Fernandez-Cuesta L et al.

Ebiomedicine, 2016

27377626 (PubMed )
Supplement: mmc1.pdf

Genomic portfolio of Merkel cell carcinoma as determined by comprehensive genomic profiling: implications for targeted therapeutics.

Cohen PR et al.

Oncotarget, 2016

UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas.

Wong SQ et al.

Cancer Research, 2015

26627015 (PubMed )
Supplement: 00085472can151877-sup-152397_1_supp_3130424_n439px.xlsx › Supplementary_Table_S7

Next-generation sequencing for molecular diagnosis of lung adenocarcinoma specimens obtained by fine needle aspiration cytology.

Qiu T et al.

Scientific Reports, 2015

Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA.

Lanman RB et al.

Plos One, 2015

26474073 (PubMed )
Supplement: pone.0140712.s004.xlsx › GH_concordance_five_centers_edi

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC
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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."