APP c.304_305delinsGC ;(p.R102A)

Variant ID: 21-27462309-CG-GC

NM_000484.3(APP):c.304_305delinsGC;(p.R102A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The type II transmembrane serine protease matriptase cleaves the amyloid precursor protein and reduces its processing to β-amyloid peptide.

The Journal Of Biological Chemistry
Lanchec, Erwan E; Désilets, Antoine A; Béliveau, François F; Flamier, Anthony A; Mahmoud, Shaimaa S; Bernier, Gilbert G; Gris, Denis D; Leduc, Richard R; Lavoie, Christine C
Publication Date: 2017-12-15

Variant appearance in text: APP: R102A
PubMed Link: 29054928
Variant Present in the following documents:
  • Main text
View BVdb publication page