APP c.2177A>G ;(p.K726R)

Variant ID: 21-27264068-T-C

NM_000484.3(APP):c.2177A>G;(p.K726R)

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: K726R
PubMed Link: 29021256
Variant Present in the following documents:
  • Main text
View BVdb publication page