Varaico: Literature-Extracted Genetic Variants

Gene:APH1B
Variant:p.T27I
Back to variants list

APH1B

NM_031301.4:p.T27I

Associated Papers

Analysis of Alzheimer's disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods.

Akcesme B et al.

Neurogenetics, 2024

Hypothesis-based investigation of known AD risk variants reveals the genetic underpinnings of neuropathological lesions observed in Alzheimer's-type dementia.

Laureyssen C et al.

Acta Neuropathologica, 2024

Whole exome sequencing analyses identified novel genes for Alzheimer's disease and related dementia.

Zhang YR et al.

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

Alzheimer's diseases in America, Europe, and Asian regions: a global genetic variation.

Hossain R et al.

Peerj, 2024

38756443 (PubMed )
Supplement: peerj-12-17339-s001.pdf

Genomics and Functional Genomics of Alzheimer's Disease.

Kamboh MI

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2022

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

de Rojas I et al.

Nature Communications, 2021

34099642 (PubMed )
Supplement: 41467_2021_22491_MOESM4_ESM.xlsx › Supplementary_Data_4

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.

Schwartzentruber J et al.

Nature Genetics, 2021

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

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S1

Negative evidence for a role of APH1B T27I variant in Alzheimer's disease.

Zhang X et al.

Human Molecular Genetics, 2020

Mutational Profiles Reveal an Aberrant TGF-β-CEA Regulated Pathway in Colon Adenomas.

Chen J et al.

Plos One, 2016

27100181 (PubMed )
Supplement: pone.0153933.s001.xlsx › WTS-adenoma_samples-First_Batch

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Sassi C et al.

Plos One, 2016

Interaction between the APOE epsilon4 allele and the APH-1b c + 651T > G SNP in Alzheimer's disease.

Poli M et al.

Neurobiology of Aging, 2008

Association analysis between anterior-pharynx defective-1 genes polymorphisms and Alzheimer's disease.

Poli M et al.

Neuroscience Letters, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."