Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P301L
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TP53

NM_000546.6:p.P301L

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 › TableS3

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

Protein modification in neurodegenerative diseases.

Ramazi S et al.

Medcomm, 2024

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 2016-06640B1.xls › SNVIndel

Outside-in signaling through the major histocompatibility complex class-I cytoplasmic tail modulates glutamate receptor expression in neurons.

Eyford BA et al.

Scientific Reports, 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

34768775 (PubMed )
Supplement: ijms-22-11345-s001.zip › Supplementary_table › Supplementary_table_1.xlsx › Sheet1

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

P53 aggregation, interactions with tau, and impaired DNA damage response in Alzheimer's disease.

Farmer KM et al.

Acta Neuropathologica Communications, 2020

Tau protein- induced sequestration of the eukaryotic ribosome: Implications in neurodegenerative disease.

Banerjee S et al.

Scientific Reports, 2020

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

Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells.

Wren MC et al.

Molecular Neurodegeneration, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Correlation of TP53 mutations with HCV positivity in hepatocarcinogenesis: identification of a novel TP53 microindel in hepatocellular carcinoma with HCV infection.

Long J et al.

Oncology Reports, 2013

Role of p73 in Alzheimer disease: lack of association in mouse models or in human cohorts.

Vardarajan B et al.

Molecular Neurodegeneration, 2013

Mutation inactivation of Nijmegen breakage syndrome gene (NBS1) in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.

Wang Y et al.

Plos One, 2013

Zinc Finger Nucleases: A new era for transgenic animals.

Swarthout JT et al.

Annals of Neurosciences, 2011

Somatic mutation analysis of p53 and ST7 tumor suppressor genes in gastric carcinoma by DHPLC.

Lu C et al.

World Journal of Gastroenterology, 2003

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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."