Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q354*
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TP53

NM_000546.6:p.Q354*

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 › PVs

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

p53 null phenotype is a "positive result" in urothelial carcinoma in situ.

Sangoi AR et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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

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-s185.xlsx › Supplemental_Table_2.1.

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_6.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

Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.

Wong K et al.

Nature Communications, 2019

30664638 (PubMed )
Supplement: 41467_2018_8081_MOESM5_ESM.xlsx › Equine-mucosal

Selective identification of somatic mutations in pancreatic cancer cells through a combination of next-generation sequencing of plasma DNA using molecular barcodes and a bioinformatic variant filter.

Kukita Y et al.

Plos One, 2018

29451897 (PubMed )
Supplement: pone.0192611.s007.xlsx › tableSX
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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."