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PSEN1 c.736_737delinsCA ;(p.A246Q)
Variant ID: 14-73659539-GC-CA
NM_000021.3(
PSEN1
):c.736_737delinsCA;(p.A246Q)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Calcium Signaling Regulated by Cellular Membrane Systems and Calcium Homeostasis Perturbed in Alzheimer's Disease.
Frontiers In Cell And Developmental Biology
Huang, Dong-Xu DX; Yu, Xin X; Yu, Wen-Jun WJ; Zhang, Xin-Min XM; Liu, Chang C; Liu, Hong-Ping HP; Sun, Yue Y; Jiang, Zi-Ping ZP
Publication Date: 2022
Variant appearance in text: PSEN1: A246Q
PubMed Link:
35281104
Variant Present in the following documents:
Main text
View BVdb publication page
Role of endoplasmic reticulum Ca2+ signaling in the pathogenesis of Alzheimer disease.
Frontiers In Molecular Neuroscience
Popugaeva, Elena E; Bezprozvanny, Ilya I
Publication Date: 2013
Variant appearance in text: PSEN1: A246Q
PubMed Link:
24065882
Variant Present in the following documents:
Main text
fnmol-06-00029.pdf
View BVdb publication page
Mechanism of Ca2+ disruption in Alzheimer's disease by presenilin regulation of InsP3 receptor channel gating.
Neuron
Cheung, King-Ho KH; Shineman, Diana D; Müller, Marioly M; Cárdenas, César C; Mei, Lijuan L; Yang, Jun J; Tomita, Taisuke T; Iwatsubo, Takeshi T; Lee, Virginia M-Y VM; Foskett, J Kevin JK
Publication Date: 2008-06-26
Variant appearance in text: PS1: A246Q
PubMed Link:
18579078
Variant Present in the following documents:
Main text
View BVdb publication page
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.
The Journal Of Clinical Investigation
Nelson, Omar O; Tu, Huiping H; Lei, Tianhua T; Bentahir, Mostafa M; de Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2007-05
Variant appearance in text: PS1: A246Q
PubMed Link:
17431506
Variant Present in the following documents:
Main text
View BVdb publication page
Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.
Cell
Tu, Huiping H; Nelson, Omar O; Bezprozvanny, Arseny A; Wang, Zhengnan Z; Lee, Sheu-Fen SF; Hao, Yi-Heng YH; Serneels, Lutgarde L; De Strooper, Bart B; Yu, Gang G; Bezprozvanny, Ilya I
Publication Date: 2006-09-08
Variant appearance in text: PS1: A246Q
PubMed Link:
16959576
Variant Present in the following documents:
Main text
View BVdb publication page