APP c.2068_2069delinsGC ;(p.F690A)

Variant ID: 21-27264176-AA-GC

NM_000484.3(APP):c.2068_2069delinsGC;(p.F690A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clathrin adaptor AP-1-mediated Golgi export of amyloid precursor protein is crucial for the production of neurotoxic amyloid fragments.

The Journal Of Biological Chemistry
Januário, Yunan C YC; Eden, Jessica J; de Oliveira, Luan S LS; De Pace, Raffaella R; Tavares, Lucas A LA; da Silva-Januário, Mara E ME; Apolloni, Vinícius B VB; Wilby, Elise L EL; Altmeyer, Randolf R; Burgos, Patricia V PV; Corrêa, Sonia A L SAL; Gershlick, David C DC; daSilva, Luis L P LLP
Publication Date: 2022-08

Variant appearance in text: APP: F690A
PubMed Link: 35753347
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex.

Developmental Cell
Burgos, Patricia V PV; Mardones, Gonzalo A GA; Rojas, Adriana L AL; daSilva, Luis L P LL; Prabhu, Yogikala Y; Hurley, James H JH; Bonifacino, Juan S JS
Publication Date: 2010-03-16

Variant appearance in text: APP: F690A
PubMed Link: 20230749
Variant Present in the following documents:
  • Main text
View BVdb publication page