Bibliome.ai browser hg19
Search
About
Stats
FAQ
APP c.2151C>G ;(p.V717=)
Variant ID: 21-27264094-G-C
NM_000484.3(
APP
):c.2151C>G;(p.V717=)
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:
De novo mutations in folate-related genes associated with common developmental disorders.
Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021
Variant appearance in text: APP: 2151C>G
PubMed Link:
33777337
Variant Present in the following documents:
mmc6.xlsx, sheet 1
View BVdb publication page
Minocycline corrects early, pre-plaque neuroinflammation and inhibits BACE-1 in a transgenic model of Alzheimer's disease-like amyloid pathology.
Journal Of Neuroinflammation
Ferretti, Maria Teresa MT; Allard, Simon S; Partridge, Vanessa V; Ducatenzeiler, Adriana A; Cuello, A Claudio AC
Publication Date: 2012-04-02
Variant appearance in text: APP: V717V
PubMed Link:
22472085
Variant Present in the following documents:
Main text
View BVdb publication page