APP c.157_159delinsTAA ;(p.D53*)

Variant ID: 21-27484362-ATC-TTA

NM_000484.3(APP):c.157_159delinsTAA;(p.D53*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The effect of mutation on an aggregation-prone protein: An in vivo, in vitro, and in silico analysis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Guthertz, N N; van der Kant, R R; Martinez, R M RM; Xu, Y Y; Trinh, C C; Iorga, B I BI; Rousseau, F F; Schymkowitz, J J; Brockwell, D J DJ; Radford, S E SE
Publication Date: 2022-05-31

Variant appearance in text: APP: D53X
PubMed Link: 35613051
Variant Present in the following documents:
  • pnas.202200468.pdf
View BVdb publication page



Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Frontiers In Neuroscience
Ibanez, Laura L; Dube, Umber U; Davis, Albert A AA; Fernandez, Maria V MV; Budde, John J; Cooper, Breanna B; Diez-Fairen, Monica M; Ortega-Cubero, Sara S; Pastor, Pau P; Perlmutter, Joel S JS; Cruchaga, Carlos C; Benitez, Bruno A BA
Publication Date: 2018

Variant appearance in text: APP: D53X
PubMed Link: 29692703
Variant Present in the following documents:
  • Main text
View BVdb publication page