Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.T230P
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TP53

NM_000546.6:p.T230P

Associated Papers

Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.

Funk JS et al.

Nature Genetics, 2025

39774325 (PubMed )
Supplement: 41588_2024_2039_MOESM5_ESM.xlsx › SuppFig6

Comprehensive classification of TP53 somatic missense variants based on their impact on p53 structural stability.

Tam B et al.

Briefings in Bioinformatics, 2024

39140857 (PubMed )
Supplement: table_s1_bbae400.xlsx › Sheet1

Mutations in the TP53, VEGFA, and CTH Genes as Key Molecular Markers for the Diagnosis of Glioblastoma.

Khalil SS et al.

Cureus, 2024

Unveiling the signaling network of FLT3-ITD AML improves drug sensitivity prediction.

Latini S et al.

Elife, 2024

38564252 (PubMed )
Supplement: elife-90532-supp9.xlsx › OncoKB_mutations

Potential immunosuppressive clonal hematopoietic mutations in tumor infiltrating immune cells in breast invasive carcinoma.

Anandakrishnan R et al.

Scientific Reports, 2023

37573441 (PubMed )
Supplement: 41598_2023_40256_MOESM2_ESM.xlsx › S1._CHIP_mutations

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

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

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_6.xlsx › Sheet1

Amplicon-Based NGS Panels for Actionable Cancer Target Identification in Follicular Cell-Derived Thyroid Neoplasia.

Madsen MB et al.

Frontiers in Endocrinology, 2020

Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Xiu J et al.

Oncotarget, 2016

26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf

Unambiguous detection of multiple TP53 gene mutations in AAN-associated urothelial cancer in Belgium using laser capture microdissection.

Aydin S et al.

Plos One, 2014

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

Schumacher V et al.

Journal of Medical Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 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."