Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L344L
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TP53

NM_001126118.2:p.L344L

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

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_MOESM1_ESM.pdf

Significant impact of circulating tumour DNA mutations on survival in metastatic breast cancer patients.

Muendlein A et al.

Scientific Reports, 2021

33762647 (PubMed )
Supplement: 41598_2021_86238_MOESM2_ESM.xlsx › Tabelle1

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

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Leroy B et al.

Cancer Research, 2017

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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."