APP c.2099G>C ;(p.G700A)

Variant ID: 21-27264146-C-G

NM_000484.3(APP):c.2099G>C;(p.G700A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Reciprocal modulation between amyloid precursor protein and synaptic membrane cholesterol revealed by live cell imaging.

Neurobiology Of Disease
DelBove, Claire E CE; Strothman, Claire E CE; Lazarenko, Roman M RM; Huang, Hui H; Sanders, Charles R CR; Zhang, Qi Q
Publication Date: 2019-07

Variant appearance in text: APP: G700A
PubMed Link: 30885793
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G700A
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



The amyloid precursor protein has a flexible transmembrane domain and binds cholesterol.

Science (New York, N.Y.)
Barrett, Paul J PJ; Song, Yuanli Y; Van Horn, Wade D WD; Hustedt, Eric J EJ; Schafer, Johanna M JM; Hadziselimovic, Arina A; Beel, Andrew J AJ; Sanders, Charles R CR
Publication Date: 2012-06-01

Variant appearance in text: APP: G700A
PubMed Link: 22654059
Variant Present in the following documents:
  • Main text
View BVdb publication page