Varaico: Literature-Extracted Genetic Variants

Gene:BCHE
Variant:p.A567T
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BCHE

NM_000055.4:p.A567T

Associated Papers

Enzymatic and genetic evaluation of butyrylcholinesterase in male infertility.

Habib R et al.

F&s Science, 2026

Genetic and functional dynamics of Butyrylcholinesterase in Alzheimer's disease: From mechanisms to clinical relevance.

Prešern U et al.

Chemico-biological Interactions, 2026

Discovery of a new function of human butyrylcholinesterase and the catalytic activity of its natural variants toward homocysteine thiolactone hydrolysis.

Chen X et al.

Chemico-biological Interactions, 2025

Hereditary Pseudocholinesterase Deficiency and Succinylcholine: Historical Perspective, Therapeutic Implications, and Future Considerations.

Nguyen JQ et al.

Pharmacotherapy, 2025

Variants in Neurotransmitter-Related Genes Are Associated with Alzheimer's Disease Risk and Cognitive Functioning but Not Short-Term Treatment Response.

Zúñiga-Santamaría T et al.

Neurology International, 2025

40423221 (PubMed )
Supplement: neurolint-17-00065-s001.zip › neurolint-3567150-supplementary.pdf

Hereditary pseudocholinesterase deficiency in a 4-year-old girl: a case report.

Schulze-Berge J et al.

Journal of Medical Case Reports, 2025

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Uncovering dark mass in population proteomics: Pan-analysis of single amino acid polymorphism relevant to cognition and aging.

Gao X et al.

Cell Genomics, 2025

The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.

Cacabelos R et al.

Expert Opinion on Drug Metabolism & Toxicology, 2025

Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.

Maggo S et al.

Frontiers in Genetics, 2025

40510810 (PubMed )
Supplement: Table3.xlsx › Table_S1

A novel BCHE frameshift mutation in a Chinese woman with butyrylcholinesterase deficiency: A case report and literature review.

Zeng J et al.

Medicine, 2024

39465744 (PubMed )
Supplement: medi-103-e39976-s001.xlsx › BCHE_Table2

Emerging significance of butyrylcholinesterase.

Sridhar GR et al.

World Journal of Experimental Medicine, 2024

The Association of Selected GWAS Reported AD Risk Loci with CSF Biomarker Levels and Cognitive Decline in Slovenian Patients.

Vogrinc D et al.

International Journal of Molecular Sciences, 2023

37629144 (PubMed )
Supplement: ijms-24-12966-s001.zip › ijms-2545179-supplementary.pdf

Pharmacogenetics of anxiety and depression in Alzheimer's disease.

Cacabelos R et al.

Pharmacogenomics, 2023

Genetic Association of Butyrylcholinesterase with Major Depressive Disorder.

Awan S et al.

Biochemical Genetics, 2022

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Characterization of four BCHE mutations associated with prolonged effect of suxamethonium.

Brazzolotto X et al.

The Pharmacogenomics Journal, 2021

Phenotype and genotype characteristics of 58 patients showing a prolonged effect of succinylcholine: A four-year experience.

Millet C et al.

Anaesthesia, Critical Care & Pain Medicine, 2021

Butyryl-cholinesterase deficiency: A case report of delayed recovery after general anaesthesia.

Al-Emam A

Toxicology Reports, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s009.xlsx › Sheet1

Genetic Testing for BCHE Variants Identifies Patients at Risk of Prolonged Neuromuscular Blockade in Response to Succinylcholine.

Zhu GD et al.

Pharmacogenomics and Personalized Medicine, 2020

Butyrylcholinesterase Protein Ends in the Pathogenesis of Alzheimer's Disease-Could BCHE Genotyping Be Helpful in Alzheimer's Therapy?

Jasiecki J et al.

Biomolecules, 2019

Haplotypes of butyrylcholinesterase K-variant and their influence on the enzyme activity.

Jasiecki J et al.

Chemico-biological Interactions, 2019

Synergy between the alteration in the N-terminal region of butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease.

Jasiecki J et al.

Scientific Reports, 2019

Biochemical Analysis and Association of Butyrylcholinesterase SNPs rs3495 and rs1803274 with Substance Abuse Disorder.

Munir S et al.

Journal of Molecular Neuroscience : Mn, 2019

Molecular characterization and polymorphisms of butyrylcholinesterase in cynomolgus macaques.

Uno Y et al.

Journal of Medical Primatology, 2018

A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.

Yu R et al.

Bmc Medical Genetics, 2018

Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.

Levano S et al.

Neuromuscular Disorders : Nmd, 2017

Activity and polymorphisms of butyrylcholinesterase in a Polish population.

Jasiecki J et al.

Chemico-biological Interactions, 2016

Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors.

Lockridge O et al.

Chemical Research in Toxicology, 2016

Patients with prolonged effect of succinylcholine or mivacurium had novel mutations in the butyrylcholinesterase gene.

Wichmann S et al.

Pharmacogenetics and Genomics, 2016

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5

[Prolonged neuromuscular block in a patient with butyrylcholinesterase deficiency].

Mabboux I et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2016

The rs1803274 polymorphism of the BCHE gene is associated with an increased risk of coronary in-stent restenosis.

Pleva L et al.

Bmc Cardiovascular Disorders, 2015

Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium.

Delacour H et al.

Plos One, 2014

Prolonged Paralysis After Electroconvulsive Therapy Due to Butyrylcholinesterase Gene Mutation.

Maxwell J et al.

Journal of Clinical Psychopharmacology, 0

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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."