APP c.2078A>C ;(p.E693A)

Variant ID: 21-27264167-T-G

NM_000484.3(APP):c.2078A>C;(p.E693A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The C99 domain of the amyloid precursor protein resides in the disordered membrane phase.

The Journal Of Biological Chemistry
Capone, Ricardo R; Tiwari, Ajit A; Hadziselimovic, Arina A; Peskova, Yelena Y; Hutchison, James M JM; Sanders, Charles R CR; Kenworthy, Anne K AK
Publication Date: 2021

Variant appearance in text: APP: E693A
PubMed Link: 33839158
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Cholesterol-lowering drugs reduce APP processing to Aβ by inducing APP dimerization.

Molecular Biology Of The Cell
Langness, Vanessa F VF; van der Kant, Rik R; Das, Utpal U; Wang, Louie L; Chaves, Rodrigo Dos Santos RDS; Goldstein, Lawrence S B LSB
Publication Date: 2021-02-01

Variant appearance in text: APP: E693A
PubMed Link: 33296223
Variant Present in the following documents:
  • Main text
  • mbc-32-247.pdf
View BVdb publication page



Cholesterol Metabolism Is a Druggable Axis that Independently Regulates Tau and Amyloid-β in iPSC-Derived Alzheimer's Disease Neurons.

Cell Stem Cell
van der Kant, Rik R; Langness, Vanessa F VF; Herrera, Cheryl M CM; Williams, Daniel A DA; Fong, Lauren K LK; Leestemaker, Yves Y; Steenvoorden, Evelyne E; Rynearson, Kevin D KD; Brouwers, Jos F JF; Helms, J Bernd JB; Ovaa, Huib H; Giera, Martin M; Wagner, Steven L SL; Bang, Anne G AG; Goldstein, Lawrence S B LSB
Publication Date: 2019-03-07

Variant appearance in text: APP: E693A
PubMed Link: 30686764
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc5.pdf
View BVdb publication page