APP c.616_617delinsGG ;(p.S206G)

Variant ID: 21-27423361-GA-CC

NM_000484.3(APP):c.616_617delinsGG;(p.S206G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An APP ectodomain mutation outside of the Aβ domain promotes Aβ production in vitro and deposition in vivo.

The Journal Of Experimental Medicine
Zhang, Xulun X; Zhang, Can Martin CM; Prokopenko, Dmitry D; Liang, Yingxia Y; Zhen, Sherri Y SY; Weigle, Ian Q IQ; Han, Weinong W; Aryal, Manish M; Tanzi, Rudolph E RE; Sisodia, Sangram S SS
Publication Date: 2021-06-07

Variant appearance in text: APP: S206G
PubMed Link: 33822840
Variant Present in the following documents:
  • Main text
  • JEM_20210313.pdf
View BVdb publication page