APP c.826A>T ;(p.T276S)

Variant ID: 21-27394195-T-A

NM_000484.3(APP):c.826A>T;(p.T276S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease
Bi, Christopher C; Bi, Stephanie S; Li, Bin B
Publication Date: 2019-04

Variant appearance in text: APP: T276S
PubMed Link: 31011484
Variant Present in the following documents:
  • Main text
  • ad-10-2-383.pdf
View BVdb publication page



Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.

Journal Of Alzheimer'S Disease : Jad
N'Songo, Aurelie A; Carrasquillo, Minerva M MM; Wang, Xue X; Nguyen, Thuy T; Asmann, Yan Y; Younkin, Steven G SG; Allen, Mariet M; Duara, Ranjan R; Custo, Maria T Greig MT; Graff-Radford, Neill N; Ertekin-Taner, Nilüfer N
Publication Date: 2017

Variant appearance in text: APP: Thr276Ser; rs202198008
PubMed Link: 28106563
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: APP: T276S
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Neuromuscular Disorders : Nmd
Weihl, Conrad C CC; Baloh, Robert H RH; Lee, Youjin Y; Chou, Tsui-Fen TF; Pittman, Sara K SK; Lopate, Glenn G; Allred, Peggy P; Jockel-Balsarotti, Jennifer J; Pestronk, Alan A; Harms, Matthew B MB
Publication Date: 2015-04

Variant appearance in text: APP: T276S
PubMed Link: 25617006
Variant Present in the following documents:
  • Main text
View BVdb publication page