APP c.2171A>T ;(p.K724M)

Variant ID: 21-27264074-T-A

NM_000484.3(APP):c.2171A>T;(p.K724M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine
Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J
Publication Date: 2020-10

Variant appearance in text: APP: 2171A>T; K724M
PubMed Link: 32767553
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1443.pdf
View BVdb publication page



The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences
Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH
Publication Date: 2020-03-30

Variant appearance in text: APP: K724M
PubMed Link: 32235595
Variant Present in the following documents:
  • Main text
  • ijms-21-02381.pdf
View BVdb publication page



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: K724M
PubMed Link: 31011484
Variant Present in the following documents:
  • Main text
  • ad-10-2-383.pdf
View BVdb publication page



Nanopore-Based Target Sequence Detection.

Plos One
Morin, Trevor J TJ; Shropshire, Tyler T; Liu, Xu X; Briggs, Kyle K; Huynh, Cindy C; Tabard-Cossa, Vincent V; Wang, Hongyun H; Dunbar, William B WB
Publication Date: 2016

Variant appearance in text: APP: K724M
PubMed Link: 27149679
Variant Present in the following documents:
  • pone.0154426.pdf
View BVdb publication page