Varaico: Literature-Extracted Genetic Variants

Gene:ABCA7
Variant:p.G1527A
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ABCA7

NM_019112.4:p.G1527A

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

Alzheimer's Disease and Effects of ABCA7 Polymorphisms: A Review.

Gialama V et al.

Journal of Integrative Neuroscience, 2024

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

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

A Novel Variant of the KIF11 Gene, c.2922G>T, Is Associated with Microcephaly by Affecting RNA Splicing.

Guo Z et al.

Developmental Neuroscience, 2022

ABCA7, a Genetic Risk Factor Associated with Alzheimer's Disease Risk in African Americans.

Stepler KE et al.

Journal of Alzheimer's Disease : Jad, 2022

Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease.

Bagaria J et al.

Frontiers in Neurology, 2022

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_004_N

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
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