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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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