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APP c.2051A>G ;(p.H684R)
Variant ID: 21-27269898-T-C
NM_000484.3(
APP
):c.2051A>G;(p.H684R)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
ADAMTS4 is involved in the production of the Alzheimer disease amyloid biomarker APP669-711.
Molecular Psychiatry
Matsuzaki, Masaya M; Yokoyama, Miyabishara M; Yoshizawa, Yota Y; Kaneko, Naoki N; Naito, Hiroki H; Kobayashi, Honoka H; Korenaga, Akihito A; Sekiya, Sadanori S; Ikemura, Kentaro K; Opoku, Gabriel G; Hirohata, Satoshi S; Iwamoto, Shinichi S; Tanaka, Koichi K; Tomita, Taisuke T
Publication Date: 2023-02-01
Variant appearance in text: APP: H684R
PubMed Link:
36721026
Variant Present in the following documents:
41380_2023_1946_MOESM1_ESM.pdf
View BVdb publication page
Encephalomalacia/gliosis, deep venous thrombosis, and cancer in Arg393His antithrombin Hanoi and the potential impact of the β-amyloid precursor protein (APP) on thrombosis and cancer.
Aims Neuroscience
Nguyen, Khue Vu KV
Publication Date: 2022
Variant appearance in text: APP: H684R
PubMed Link:
35860682
Variant Present in the following documents:
Main text
neurosci-09-02-010.pdf
View BVdb publication page
Genetic variants associated with neurodegenerative Alzheimer disease in natural models.
Biological Research
Salazar, Claudia C; Valdivia, Gonzalo G; Ardiles, Álvaro O ÁO; Ewer, John J; Palacios, Adrián G AG
Publication Date: 2016-02-26
Variant appearance in text: APP: H684R
PubMed Link:
26919851
Variant Present in the following documents:
Main text
40659_2016_Article_72.pdf
View BVdb publication page