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APP c.1951A>G ;(p.T651A)
Variant ID: 21-27277348-T-C
NM_000484.3(
APP
):c.1951A>G;(p.T651A)
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:
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05
Variant appearance in text: APP: T651A
PubMed Link:
27377421
Variant Present in the following documents:
ncomms12072-s6.xlsx, sheet 1
View BVdb publication page
Brain endothelial cells produce amyloid {beta} from amyloid precursor protein 770 and preferentially secrete the O-glycosylated form.
The Journal Of Biological Chemistry
Kitazume, Shinobu S; Tachida, Yuriko Y; Kato, Masaki M; Yamaguchi, Yoshiki Y; Honda, Takashi T; Hashimoto, Yasuhiro Y; Wada, Yoshinao Y; Saito, Takashi T; Iwata, Nobuhisa N; Saido, Takaomi T; Taniguchi, Naoyuki N
Publication Date: 2010-12-17
Variant appearance in text: APP: T651A
PubMed Link:
20952385
Variant Present in the following documents:
Main text
View BVdb publication page