APP c.2098G>T ;(p.G700C)

Variant ID: 21-27264147-C-A

NM_000484.3(APP):c.2098G>T;(p.G700C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Perturbations of the straight transmembrane α-helical structure of the amyloid precursor protein affect its processing by γ-secretase.

The Journal Of Biological Chemistry
Lemmin, Thomas T; Dimitrov, Mitko M; Fraering, Patrick C PC; Dal Peraro, Matteo M
Publication Date: 2014-03-07

Variant appearance in text: APP: G700C
PubMed Link: 24469457
Variant Present in the following documents:
  • Main text
  • supp_M113.470781_jbc.M113.470781-1.pdf
  • zbc6763.pdf
View BVdb publication page



Competition between homodimerization and cholesterol binding to the C99 domain of the amyloid precursor protein.

Biochemistry
Song, Yuanli Y; Hustedt, Eric J EJ; Brandon, Suzanne S; Sanders, Charles R CR
Publication Date: 2013-07-30

Variant appearance in text: APP: G700C
PubMed Link: 23865807
Variant Present in the following documents:
  • Main text
View BVdb publication page