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APP c.844T>G ;(p.S282A)
Variant ID: 21-27394177-A-C
NM_000484.3(
APP
):c.844T>G;(p.S282A)
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:
Novel N-terminal cleavage of APP precludes Abeta generation in ACAT-defective AC29 cells.
Journal Of Molecular Neuroscience : Mn
Huttunen, Henri J HJ; Puglielli, Luigi L; Ellis, Blake C BC; MacKenzie Ingano, Laura A LA; Kovacs, Dora M DM
Publication Date: 2009-01
Variant appearance in text: APP: S282A
PubMed Link:
18618086
Variant Present in the following documents:
Main text
View BVdb publication page