Varaico: Literature-Extracted Genetic Variants

Gene:AADAC
Variant:p.*400Q
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AADAC

NM_001086.3:p.*400Q

Associated Papers

Regulation of Human Hydrolases and Its Implications in Pharmacokinetics and Pharmacodynamics.

Jung SM et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2024

Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?

Levy AM et al.

Genes, 2021

34573303 (PubMed )
Supplement: genes-12-01321-s001.zip › genes-1240846-supplementary.pdf

Role of Human Arylacetamide Deacetylase (AADAC) on Hydrolysis of Eslicarbazepine Acetate and Effects of AADAC Genetic Polymorphisms on Hydrolase Activity.

Hirosawa K et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2021

Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Lu S et al.

Theranostics, 2021

33456573 (PubMed )
Supplement: thnov11p2788s1.pdf

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.

Vadgama N et al.

European Journal of Human Genetics : Ejhg, 2019

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

A novel polymorphic allele of human arylacetamide deacetylase leads to decreased enzyme activity.

Shimizu M et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2012

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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."