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APP c.242A>T ;(p.Q81L)
Variant ID: 21-27462372-T-A
NM_000484.3(
APP
):c.242A>T;(p.Q81L)
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:
APP anterograde transport requires Rab3A GTPase activity for assembly of the transport vesicle.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Szodorai, Anita A; Kuan, Yung-Hui YH; Hunzelmann, Silke S; Engel, Ulrike U; Sakane, Ayuko A; Sasaki, Takuya T; Takai, Yoshimi Y; Kirsch, Joachim J; Müller, Ulrike U; Beyreuther, Konrad K; Brady, Scott S; Morfini, Gerardo G; Kins, Stefan S
Publication Date: 2009-11-18
Variant appearance in text: APP: Q81L
PubMed Link:
19923287
Variant Present in the following documents:
Main text
View BVdb publication page