APP c.1151A>C ;(p.D384A)

Variant ID: 21-27354730-T-G

NM_000484.3(APP):c.1151A>C;(p.D384A)

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:

Gain-of-function enhancement of IP3 receptor modal gating by familial Alzheimer's disease-linked presenilin mutants in human cells and mouse neurons.

Science Signaling
Cheung, King-Ho KH; Mei, Lijuan L; Mak, Don-On Daniel DO; Hayashi, Ikuo I; Iwatsubo, Takeshi T; Kang, David E DE; Foskett, J Kevin JK
Publication Date: 2010-03-23

Variant appearance in text: APP: D384A
PubMed Link: 20332427
Variant Present in the following documents:
  • Main text
View BVdb publication page