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AKAP9 c.4274A>G ;(p.E1425G)
Variant ID: 7-91660854-A-G
NM_005751.4(
AKAP9
):c.4274A>G;(p.E1425G)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease.
Frontiers In Cardiovascular Medicine
Wang, Mengru M; Tu, Xin X
Publication Date: 2022
Variant appearance in text: AKAP9: E1425G
PubMed Link:
35783865
Variant Present in the following documents:
Main text
fcvm-09-891399.pdf
View BVdb publication page
Functional Microdomains in Heart's Pacemaker: A Step Beyond Classical Electrophysiology and Remodeling.
Frontiers In Physiology
Lang, Di D; Glukhov, Alexey V AV
Publication Date: 2018
Variant appearance in text: AKAP9: E1425G
PubMed Link:
30538641
Variant Present in the following documents:
Main text
fphys-09-01686.pdf
View BVdb publication page
Long QT Syndrome and Sinus Bradycardia-A Mini Review.
Frontiers In Cardiovascular Medicine
Wilders, Ronald R; Verkerk, Arie O AO
Publication Date: 2018
Variant appearance in text: LQT11: E1425G
PubMed Link:
30123799
Variant Present in the following documents:
Main text
fcvm-05-00106.pdf
View BVdb publication page
Molecular Pathophysiology of Congenital Long QT Syndrome.
Physiological Reviews
Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS
Publication Date: 2017-01
Variant appearance in text: LQT11: E1425G
PubMed Link:
27807201
Variant Present in the following documents:
Main text
View BVdb publication page
Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins.
Circulation Research
Ackerman, Michael J MJ; Mohler, Peter J PJ
Publication Date: 2010-08-20
Variant appearance in text: AKAP9: E1425G
PubMed Link:
20724725
Variant Present in the following documents:
Main text
View BVdb publication page
From Fifth Business to Protagonist: the complex roles of ion channel anchors in cardiac arrhythmia.
Drug Discovery Today. Disease Models
Kline, Crystal F CF; Mohler, Peter J PJ
Publication Date: 2009-09-01
Variant appearance in text: AKAP9: E1425G
PubMed Link:
20689672
Variant Present in the following documents:
Main text
View BVdb publication page
Inositol trisphosphate receptor Ca2+ release channels.
Physiological Reviews
Foskett, J Kevin JK; White, Carl C; Cheung, King-Ho KH; Mak, Don-On Daniel DO
Publication Date: 2007-04
Variant appearance in text: AKAP9: E1425G
PubMed Link:
17429043
Variant Present in the following documents:
Main text
View BVdb publication page