Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L43I
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ATM

NM_000051.4:p.L43I

Associated Papers

Integrated multiplexed assays of variant effect reveal determinants of catechol-O-methyltransferase gene expression.

Hoskins I et al.

Molecular Systems Biology, 2024

38355921 (PubMed )
Supplement: 44320_2024_18_MOESM5_ESM.zip › MSB-2023-12096_DatasetEV4 › Dataset_EV4.xls › Sheet1

Integrated multiplexed assays of variant effect reveal cis-regulatory determinants of catechol-O-methyltransferase gene expression.

Hoskins I et al.

Biorxiv : the Preprint Server for Biology, 2023

38014045 (PubMed )
Supplement: media-1.xlsx › Table_3

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_5.xlsx › Sheet1

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

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-5.xlsx › P53_Hiseq4k_cdn20170920_inF__2_
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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."