PSEN2 c.683A>T ;(p.Q228L)

Variant ID: 1-227076646-A-T

NM_000447.2(PSEN2):c.683A>T;(p.Q228L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The genetics of Alzheimer's disease.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2014

Variant appearance in text: PSEN2: Gln228Leu
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Conformational altered p53 as an early marker of oxidative stress in Alzheimer's disease.

Plos One
Buizza, Laura L; Cenini, Giovanna G; Lanni, Cristina C; Ferrari-Toninelli, Giulia G; Prandelli, Chiara C; Govoni, Stefano S; Buoso, Erica E; Racchi, Marco M; Barcikowska, Maria M; Styczynska, Maria M; Szybinska, Aleksandra A; Butterfield, David Allan DA; Memo, Maurizio M; Uberti, Daniela D
Publication Date: 2012

Variant appearance in text: PS2: Q228L
PubMed Link: 22242180
Variant Present in the following documents:
  • Main text
  • pone.0029789.pdf
View BVdb publication page



Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

Brain : A Journal Of Neurology
Jayadev, Suman S; Leverenz, James B JB; Steinbart, Ellen E; Stahl, Justin J; Klunk, William W; Yu, Cheng-En CE; Bird, Thomas D TD
Publication Date: 2010-04

Variant appearance in text: PSEN2: Q228L
PubMed Link: 20375137
Variant Present in the following documents:
  • Main text
View BVdb publication page