Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.D49A
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TP53

NM_000546.6:p.D49A

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

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.

Fortuno C et al.

Genome Medicine, 2025

41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM2_ESM.xlsx › Table_S2

Detection of clinically relevant variants in the TP53 gene below 10% allelic frequency: A multicenter study by ERIC, the European Research Initiative on CLL.

Pavlova S et al.

Hemasphere, 2025

39840379 (PubMed )
Supplement: HEM3-9-e70065-s001.xlsx › Table_S5

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

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

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1B._Negative_Set

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement

Structure of the E6/E6AP/p53 complex required for HPV-mediated degradation of p53.

Martinez-Zapien D et al.

Nature, 2016

26789255 (PubMed )
Supplement: NIHMS740729-supplement-supp_fig1.pdf

Structure of the p53 transactivation domain in complex with the nuclear receptor coactivator binding domain of CREB binding protein.

Lee CW et al.

Biochemistry, 2010

Mast cell and monocyte recruitment by S100A12 and its hinge domain.

Yan WX et al.

The Journal of Biological Chemistry, 2008

The ETS family member ERM contains an alpha-helical acidic activation domain that contacts TAFII60.

Defossez PA et al.

Nucleic Acids Research, 1997

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