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APP c.445C>A ;(p.H149N)
Variant ID: 21-27425575-G-T
NM_000484.3(
APP
):c.445C>A;(p.H149N)
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: H149N
PubMed Link:
22685292
Variant Present in the following documents:
Main text
View BVdb publication page