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.




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