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