Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.S392*
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TP53

NM_000546.6:p.S392*

Associated Papers

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Saeki N et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2025

Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre.

Butz H et al.

Scientific Reports, 2023

37653074 (PubMed )
Supplement: 41598_2023_41481_MOESM3_ESM.xlsx › gnomAD_v2.1.1__non-cancer_

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

de Andrade KC et al.

Human Mutation, 2019

30352134 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_Table_1

Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.

Ross JS et al.

Cancer, 2016

Single nucleotide variation in the TP53 3' untranslated region in diffuse large B-cell lymphoma treated with rituximab-CHOP: a report from the International DLBCL Rituximab-CHOP Consortium Program.

Li Y et al.

Blood, 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."