APP c.548A>C ;(p.E183A)

Variant ID: 21-27423430-T-G

NM_000484.3(APP):c.548A>C;(p.E183A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Defining the binding interface of Amyloid Precursor Protein (APP) and Contactin3 (CNTN3) by site-directed mutagenesis.

Plos One
Peng, Xi X; Williams, John J; Smallwood, Philip M PM; Nathans, Jeremy J
Publication Date: 2019

Variant appearance in text: APP: E183A
PubMed Link: 31318883
Variant Present in the following documents:
  • Main text
  • pone.0219384.pdf
View BVdb publication page



Amyloid precursor protein dimerization and synaptogenic function depend on copper binding to the growth factor-like domain.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Baumkötter, Frederik F; Schmidt, Nadine N; Vargas, Carolyn C; Schilling, Sandra S; Weber, Rebecca R; Wagner, Katja K; Fiedler, Sebastian S; Klug, Wilfried W; Radzimanowski, Jens J; Nickolaus, Sebastian S; Keller, Sandro S; Eggert, Simone S; Wild, Klemens K; Kins, Stefan S
Publication Date: 2014-08-13

Variant appearance in text: APP: E183A
PubMed Link: 25122912
Variant Present in the following documents:
  • Main text
View BVdb publication page