Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E224_V225Splc
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TP53

NM_000546.6:p.E224_V225Splc

Associated Papers

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM3_ESM.xlsx › Common.Cosmic_Mut

Molecular insights into TP53 mutation (p. Arg267Trp) and its connection to Choroid Plexus Carcinomas and Li-Fraumeni Syndrome.

Abduljaleel Z

Genes & Genomics, 2024

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 › BVs

A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.

Sinha S et al.

Nature Communications, 2021

34764240 (PubMed )
Supplement: 41467_2021_26788_MOESM14_ESM.zip › Source_Data › Source_Data_Figure_1-6.xlsx › Figure_6F

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Doffe F et al.

Cell Death and Differentiation, 2021

33257846 (PubMed )
Supplement: 41418_2020_672_MOESM3_ESM.xlsx › Table_S2a

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

Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico.

Uscanga-Perales GI et al.

Oncology Letters, 2019

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Smetana J et al.

Molecular Cytogenetics, 2018

29375670 (PubMed )
Supplement: 13039_2018_357_MOESM2_ESM.xlsx › variants

Expression of cell cycle regulators and frequency of TP53 mutations in high risk gastrointestinal stromal tumors prior to adjuvant imatinib treatment.

Ihle MA et al.

Plos One, 2018

29451912 (PubMed )
Supplement: pone.0193048.s003.xls › Sanger_results

TIAM1 variants improve clinical outcome in neuroblastoma.

Sanmartín E et al.

Oncotarget, 2017

28423360 (PubMed )
Supplement: oncotarget-08-45286-s004.xlsx › Sheet1

Mutational Status of CDKN2A and TP53 Genes in Laryngeal Squamous Cell Carcinoma.

Todorova TA et al.

Pathology Oncology Research : Por, 2015

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Castro-Vega LJ et al.

Nature Communications, 2015

25625332 (PubMed )
Supplement: ncomms7044-s4.xlsx › Supplementary_Data_3

Detection of p53 common intron polymorphisms in patients with gastritis lesions from Iran.

Najjar Sadeghi R et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

Association of intron and exon polymorphisms of p53 gene in Iranian patients with gastritis.

Najjar Sadeghi R et al.

Gastroenterology and Hepatology From Bed to Bench, 2013

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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."