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PSEN1 c.715A>G ;(p.K239E)
Variant ID: 14-73659518-A-G
NM_000021.3(
PSEN1
):c.715A>G;(p.K239E)
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:
Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.
Cell Calcium
Supnet, Charlene C; Bezprozvanny, Ilya I
Publication Date: 2011-09
Variant appearance in text: PS1: K239E
PubMed Link:
21663966
Variant Present in the following documents:
Main text
View BVdb publication page
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
Journal Of Alzheimer'S Disease : Jad
Nelson, Omar O; Supnet, Charlene C; Liu, Huarui H; Bezprozvanny, Ilya I
Publication Date: 2010
Variant appearance in text: PS1: K239E
PubMed Link:
20634584
Variant Present in the following documents:
Main text
View BVdb publication page