Varaico: Literature-Extracted Genetic Variants

Gene:CHAT
Variant:p.A120T
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CHAT

NM_020549.5:p.A120T

Associated Papers

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.

Parvizi Omran S et al.

Iranian Journal of Child Neurology, 2019

CHAT gene polymorphism rs3810950 is associated with the risk of Alzheimer's disease in the Czech population.

Hálová A et al.

Journal of Biomedical Science, 2018

Association of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A) with Alzheimer's Disease Risk: A Meta-Analysis.

Yuan H et al.

Plos One, 2016

The contribution of rare and common variants in 30 genes to risk nicotine dependence.

Yang J et al.

Molecular Psychiatry, 2015

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P3H

Genetic variation in the choline O-acetyltransferase gene in depression and Alzheimer's disease: the VITA and Milano studies.

Grünblatt E et al.

Journal of Psychiatric Research, 2011

Congenital myasthenic syndrome with episodic apnea.

Mallory LA et al.

Pediatric Neurology, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Genetic risk factors and markers for Alzheimer's disease and/or depression in the VITA study.

Grünblatt E et al.

Journal of Psychiatric Research, 2009

Evaluation of choline acetyltransferase gene polymorphism (2384 G/A) in Alzheimer's disease and mild cognitive impairment.

Tang M et al.

Dementia and Geriatric Cognitive Disorders, 2008

Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease.

Ozturk A et al.

Neurobiology of Aging, 2006

ApoE-epsilon 4-dependent association of the choline acetyltransferase gene polymorphisms (2384G>A and 1882G>A) with Alzheimer's disease.

Ahn Jo S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006

Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.

Harold D et al.

Human Genetics, 2003

Choline acetyltransferase 2384G>a polymorphism and the risk of Alzheimer disease.

Lee JJ et al.

Alzheimer Disease and Associated Disorders, 0

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