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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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