Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L330F
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TP53

NM_000546.6:p.L330F

Associated Papers

Effect of C-to-T transition at CpG sites on tumor suppressor genes in tumor development in cattle evaluated by somatic mutation analysis in enzootic bovine leukosis.

Nishimori A et al.

Msphere, 2024

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

Spatial transcriptomics reveal topological immune landscapes of Asian head and neck angiosarcoma.

Loh JW et al.

Communications Biology, 2023

37106027 (PubMed )
Supplement: 42003_2023_4856_MOESM5_ESM.xlsx › Supplementary_Data_2

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s185.xlsx › Supplemental_Table_2.1.

Mutations in the tumor suppressor gene p53 in cattle are associated with enzootic bovine leukosis.

Konishi M et al.

Veterinary Microbiology, 2021

Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.

Wilson GD et al.

Oncotarget, 2018

29899834 (PubMed )
Supplement: oncotarget-09-25957-s003.xlsx › ST2_GeneVar_Mets

TP53 mutations in human cancer: database reassessment and prospects for the next decade.

Leroy B et al.

Human Mutation, 2014

24665023 (PubMed )
Supplement: supplement_1.pdf

[The frequency and spectrum of KRAS mutations in metastatic colorectal cancer].

Mazurenko NN et al.

Voprosy Onkologii, 2013

TP53 mutation analysis of malignant peripheral nerve sheath tumors.

Verdijk RM et al.

Journal of Neuropathology and Experimental Neurology, 2010

[Analysis of polymorphisms in genes of insulin receptor substrate-1 and enzymes involved in estrogen biosynthesis and metabolism among breast cancer patients with BRCA1 mutations].

Bershteĭn LM et al.

Voprosy Onkologii, 2009

[Frequency of 5382insC mutation of the BRCA1 gene].

Bermisheva MA et al.

Voprosy Onkologii, 2008

[Detection of genetic mutations in clinical specimens from cancer patients: comparison of NIRCA and SSCP scanning methods].

Botezatu IV et al.

Voprosy Onkologii, 2007

Parallel analysis of tetramerization domain mutants of the human p53 protein using PCR colonies.

Merritt J et al.

Genomic Medicine, 2007

[Investigation of mutations of BRCA1 and BRCA2 genes in 52 breast cancer patients].

Tereshchenko IV et al.

Voprosy Onkologii, 2002

Mutually compensatory mutations during evolution of the tetramerization domain of tumor suppressor p53 lead to impaired hetero-oligomerization.

Mateu MG et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

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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."