APP c.2045A>C ;(p.E682A)

Variant ID: 21-27269904-T-G

NM_000484.3(APP):c.2045A>C;(p.E682A)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Cellular hormetic response to 27-hydroxycholesterol promotes neuroprotection through AICD induction of MAST4 abundance and kinase activity.

Scientific Reports
Gongol, Brendan B; Marin, Traci L TL; Jeppson, John D JD; Mayagoitia, Karina K; Shin, Samuel S; Sanchez, Nicholas N; Kirsch, Wolff M WM; Vinters, Harry V HV; Wilson, Christopher G CG; Ghribi, Othman O; Soriano, Salvador S
Publication Date: 2017-10-24

Variant appearance in text: APP: E682A
PubMed Link: 29066835
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_13933.pdf
View BVdb publication page