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AKAP9 c.10591C>G ;(p.Q3531E)
Variant ID: 7-91727092-C-G
NM_005751.4(
AKAP9
):c.10591C>G;(p.Q3531E)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Polymorphisms/Mutations in A-Kinase Anchoring Proteins (AKAPs): Role in the Cardiovascular System.
Journal Of Cardiovascular Development And Disease
Suryavanshi, Santosh V SV; Jadhav, Shweta M SM; McConnell, Bradley K BK
Publication Date: 2018-01-25
Variant appearance in text: AKAP9: Gln3531Glu
PubMed Link:
29370121
Variant Present in the following documents:
Main text
jcdd-05-00007.pdf
View BVdb publication page
The genetics of pro-arrhythmic adverse drug reactions.
British Journal Of Clinical Pharmacology
Petropoulou, Evmorfia E; Jamshidi, Yalda Y; Behr, Elijah R ER
Publication Date: 2014-04
Variant appearance in text: LQT11: Q3531E
PubMed Link:
23834499
Variant Present in the following documents:
Main text
View BVdb publication page
Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes.
The Pharmacogenomics Journal
Ramirez, A H AH; Shaffer, C M CM; Delaney, J T JT; Sexton, D P DP; Levy, S E SE; Rieder, M J MJ; Nickerson, D A DA; George, A L AL; Roden, D M DM
Publication Date: 2013-08
Variant appearance in text: AKAP9: Gln3531Glu
PubMed Link:
22584458
Variant Present in the following documents:
Main text
nihms-370050.pdf
View BVdb publication page