APP c.442_443delinsGC ;(p.L148A)

Variant ID: 21-27425577-AG-GC

NM_000484.3(APP):c.442_443delinsGC;(p.L148A)

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 amyloid precursor protein copper binding domain histidine residues 149 and 151 mediate APP stability and metabolism.

The Journal Of Biological Chemistry
Spoerri, Loredana L; Vella, Laura J LJ; Pham, Chi L L CL; Barnham, Kevin J KJ; Cappai, Roberto R
Publication Date: 2012-08-03

Variant appearance in text: APP: L148A
PubMed Link: 22685292
Variant Present in the following documents:
  • Main text
View BVdb publication page