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APP c.2174A>G ;(p.K725R)
Variant ID: 21-27264071-T-C
NM_000484.3(
APP
):c.2174A>G;(p.K725R)
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:
Disruption of amyloid precursor protein ubiquitination selectively increases amyloid β (Aβ) 40 levels via presenilin 2-mediated cleavage.
The Journal Of Biological Chemistry
Williamson, Rebecca L RL; Laulagnier, Karine K; Miranda, André M AM; Fernandez, Marty A MA; Wolfe, Michael S MS; Sadoul, Rémy R; Di Paolo, Gilbert G
Publication Date: 2017-12-01
Variant appearance in text: APP: K725R
PubMed Link:
29021256
Variant Present in the following documents:
Main text
View BVdb publication page