Varaico: Literature-Extracted Genetic Variants

Gene:ABCA7
Variant:p.L509L
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ABCA7

NM_019112.4:p.L509L

Associated Papers

Rare ABCA7 mutations in Alzheimer's disease and cerebral amyloid angiopathy pathology.

Hendrickx Van de Craen E et al.

Neurobiology of Aging, 2026

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Structural insights into human ABCA7-mediated lipid transport.

Fang SC et al.

Structure (london, England : 1993), 2025

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

The ABC's of Alzheimer risk gene ABCA7.

Duchateau L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

39423205 (PubMed )
Supplement: pone.0312335.s007.xlsx › Family_A

Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.

Boukhalfa W et al.

Frontiers in Aging Neuroscience, 2023

37342358 (PubMed )
Supplement: Table_2.XLSX › Table_2_SNPnexus_annotation

PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2022

36362122 (PubMed )
Supplement: ijms-23-13331-s001.zip › ijms-1932674-supplementary.pdf

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.

Bossaerts L et al.

Acta Neuropathologica Communications, 2022

Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.

Dong L et al.

Journal of Alzheimer's Disease : Jad, 2022

34958020 (PubMed )
Supplement: jad-85-jad215067-s001.pdf

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Bagyinszky E et al.

Brain Sciences, 2021

34679393 (PubMed )
Supplement: brainsci-11-01328-s001.zip › brainsci-1394263-supplementary.pdf

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Qin W et al.

Human Molecular Genetics, 2021

33835157 (PubMed )
Supplement: supplementary_tables_ddab090.xlsx › Supplementary_Table_1

Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Bagyinszky E et al.

Diagnostics (basel, Switzerland), 2020

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

ABCA7-A Member of the ABC Transporter Family in Healthy and Ailing Brain.

Surguchev AA et al.

Brain Sciences, 2020

Association study of the ABCA7 rs3752246 polymorphism in Alzheimer's disease.

Fehér Á et al.

Psychiatry Research, 2019

Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Van Giau V et al.

Neuropsychiatric Disease and Treatment, 2018

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.

De Roeck A et al.

Acta Neuropathologica, 2017

28447221 (PubMed )
Supplement: 401_2017_1714_MOESM1_ESM.pdf

ABCA7 p.G215S as potential protective factor for Alzheimer's disease.

Sassi C et al.

Neurobiology of Aging, 2016

27289440 (PubMed )
Supplement: mmc1.docx

ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing.

Satoh K et al.

The Journal of Biological Chemistry, 2015

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Wong TN et al.

Nature, 2015

25487151 (PubMed )
Supplement: NIHMS635306-supplement-5.xlsx › taml.extension.all.tier1.2013.0

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

Naj AC et al.

Nature Genetics, 2011

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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."