Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.K164_Q165delFs
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TP53

NM_000546.6:p.K164_Q165delFs

Associated Papers

TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.

Liu S et al.

Annals of Hematology, 2026

41559357 (PubMed )
Supplement: 277_2026_6771_MOESM2_ESM.xlsx › TableS2

Li-Fraumeni-associated osteosarcomas: The French experience.

Saucier E et al.

Pediatric Blood & Cancer, 2024

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

Khalil SS et al.

Cureus, 2024

Clinical and functional analysis of the germline TP53 p.K164E acetylation site variant.

Pinto EM et al.

Cold Spring Harbor Molecular Case Studies, 2023

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

Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Raad S et al.

Journal of Medical Genetics, 2021

33051313 (PubMed )
Supplement: jmedgenet-2020-107059supp002.pdf

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Zerdoumi Y et al.

Human Molecular Genetics, 2017

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