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APP c.2098G>T ;(p.G700C)
Variant ID: 21-27264147-C-A
NM_000484.3(
APP
):c.2098G>T;(p.G700C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Perturbations of the straight transmembrane α-helical structure of the amyloid precursor protein affect its processing by γ-secretase.
The Journal Of Biological Chemistry
Lemmin, Thomas T; Dimitrov, Mitko M; Fraering, Patrick C PC; Dal Peraro, Matteo M
Publication Date: 2014-03-07
Variant appearance in text: APP: G700C
PubMed Link:
24469457
Variant Present in the following documents:
Main text
supp_M113.470781_jbc.M113.470781-1.pdf
zbc6763.pdf
View BVdb publication page
Competition between homodimerization and cholesterol binding to the C99 domain of the amyloid precursor protein.
Biochemistry
Song, Yuanli Y; Hustedt, Eric J EJ; Brandon, Suzanne S; Sanders, Charles R CR
Publication Date: 2013-07-30
Variant appearance in text: APP: G700C
PubMed Link:
23865807
Variant Present in the following documents:
Main text
View BVdb publication page