Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.N247N
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TP53

NM_000546.6:p.N247N

Associated Papers

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

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel

The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Anwar N et al.

Bmc Genomics, 2021

34915860 (PubMed )
Supplement: 12864_2021_8221_MOESM2_ESM.xlsx › Sheet1

Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Ramberg I et al.

Investigative Ophthalmology & Visual Science, 2021

34779821 (PubMed )
Supplement: iovs-62-14-11_s001.pdf

Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population.

Shahid S et al.

Frontiers in Genetics, 2020

32655615 (PubMed )
Supplement: Table_2.XLSX › Sheet1

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

The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Inman GJ et al.

Nature Communications, 2018

30202019 (PubMed )
Supplement: 41467_2018_6027_MOESM14_ESM.xlsx › Sheet1

Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas.

Helbig D et al.

Oncotarget, 2017

Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Bennett TM et al.

Plos One, 2017

29267365 (PubMed )
Supplement: pone.0189881.s008.xlsx › S8a._Cat__1__all

TP53 mutations in human cancer: database reassessment and prospects for the next decade.

Leroy B et al.

Human Mutation, 2014

Systematic functional study of cytochrome P450 2D6 promoter polymorphisms in the Chinese Han population.

Gong X et al.

Plos One, 2013

Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations.

Soussi T et al.

Human Mutation, 2005

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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."