Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q165K
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TP53

NM_000546.6:p.Q165K

Associated Papers

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.

Montellier E et al.

Ebiomedicine, 2026

41370968 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.

Montellier E et al.

Iscience, 2024

39634561 (PubMed )
Supplement: mmc2.xlsx › TableS1

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › TP53

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

Co-evolution of AR gene copy number and structural complexity in endocrine therapy resistant prostate cancer.

Zivanovic A et al.

Nar Cancer, 2023

37636316 (PubMed )
Supplement: zcad045_supplemental_files.zip › SupplementaryDataS12.xlsx › Sheet_1

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_S1

Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Tam B et al.

Iscience, 2023

36879825 (PubMed )
Supplement: mmc2.xlsx › TP53

A new intronic quantitative PCR method led to the discovery of transformation from human ascites to murine malignancy in a mouse model.

Jin J et al.

Frontiers in Oncology, 2023

Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.

Tam B et al.

International Journal of Molecular Sciences, 2021

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_3.xlsx › Sheet1

Analysis and Interpretation of the Impact of Missense Variants in Cancer.

Petrosino M et al.

International Journal of Molecular Sciences, 2021

34063805 (PubMed )
Supplement: ijms-22-05416-s001.zip › new_supplementary_file1.xlsx › new_supplementary_file1

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS2

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Lang GT et al.

Nature Communications, 2020

Genomic and Epigenomic Landscaping Defines New Therapeutic Targets for Adenosquamous Carcinoma of the Pancreas.

Lenkiewicz E et al.

Cancer Research, 2020

Combining Ramachandran plot and molecular dynamics simulation for structural-based variant classification: Using TP53 variants as model.

Tam B et al.

Computational and Structural Biotechnology Journal, 2020

33363700 (PubMed )
Supplement: mmc1.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

Expression of cell cycle regulators and frequency of TP53 mutations in high risk gastrointestinal stromal tumors prior to adjuvant imatinib treatment.

Ihle MA et al.

Plos One, 2018

29451912 (PubMed )
Supplement: pone.0193048.s003.xls › Sanger_results

Isolation, characterization and functional analysis of full length p53 cDNA from Bubalus bubalis.

Singh M et al.

Gene, 2015

mCSM: predicting the effects of mutations in proteins using graph-based signatures.

Pires DE et al.

Bioinformatics (oxford, England), 2014

24281696 (PubMed )
Supplement: supp_btt691_suppl.pdf

Adaptive evolution of p53 thermodynamic stability.

Khoo KH et al.

Journal of Molecular Biology, 2009

Semirational design of active tumor suppressor p53 DNA binding domain with enhanced stability.

Nikolova PV et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

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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."