APP c.2150T>C ;(p.V717A)

Variant ID: 21-27264095-A-G

NM_000484.3(APP):c.2150T>C;(p.V717A)

This variant was identified in 3 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: 2150T>C
PubMed Link: 32767553
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1443.pdf
View BVdb publication page



Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease.

Acta Neuropathologica
Mann, David M A DMA; Davidson, Yvonne S YS; Robinson, Andrew C AC; Allen, Nancy N; Hashimoto, Tadafumi T; Richardson, Anna A; Jones, Matthew M; Snowden, Julie S JS; Pendleton, Neil N; Potier, Marie-Claude MC; Laquerrière, Annie A; Prasher, Vee V; Iwatsubo, Takeshi T; Strydom, Andre A
Publication Date: 2018-10

Variant appearance in text: APP: Val717Ala
PubMed Link: 29770843
Variant Present in the following documents:
  • Main text
  • 401_2018_Article_1866.pdf
View BVdb publication page



Axonal degeneration in Alzheimer's disease: when signaling abnormalities meet the axonal transport system.

Experimental Neurology
Kanaan, Nicholas M NM; Pigino, Gustavo F GF; Brady, Scott T ST; Lazarov, Orly O; Binder, Lester I LI; Morfini, Gerardo A GA
Publication Date: 2013-08

Variant appearance in text: APP: V717A
PubMed Link: 22721767
Variant Present in the following documents:
  • Main text
View BVdb publication page