AKAP9 Chromosome 7

A-kinase anchoring protein 9
279 variants 279 Health Risk

Upload your DNA to see your personal genotypes for variants in AKAP9.

What This Gene Does
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
"A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
7q21.2
Ensembl
ENSG00000127914
Associated Conditions (21)
Long QT syndrome
Cardiovascular phenotype
Long QT syndrome 11
Cardiomyopathy
Wolff-Parkinson-White pattern
Ventricular fibrillation
AKAP9-related disorder
Thyroid cancer
nonmedullary
1
Congenital long QT syndrome
Brugada syndrome 1
Catecholaminergic polymorphic ventricular tachycardia
Cervical cancer
Colon adenocarcinoma
Malignant tumor of esophagus
Cardiac arrhythmia
Brugada syndrome
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy
+1 more conditions
Key Variants
RS1016368660
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1029311669
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1040204302
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
Health Risk
RS1042630361
Conflicting classifications of pathogenicity
Cardiomyopathy, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS1057521238
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1157417207
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
Health Risk
RS1165716443
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS1188686549
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS121908566
Conflicting classifications of pathogenicity
Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS1229169680
Conflicting classifications of pathogenicity
Cardiomyopathy, Long QT syndrome 11, Long QT syndrome
Health Risk
RS1235885918
Conflicting classifications of pathogenicity
Long QT syndrome, Long QT syndrome
Health Risk
RS1238314038
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
All Variants (279)
RSID Category Clinical Significance Conditions
RS144918888 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS145033147 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
RS145675748 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS146022334 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
RS146186205 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
RS146305558 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
RS1463067477 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
RS146495719 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype
RS146648044 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
RS146831402 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
RS147033628 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS147247719 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS147302252 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
RS1475038289 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS147841245 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
RS148267537 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
RS148318643 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
RS148442799 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
RS1487757753 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS149162273 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS149244653 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, AKAP9-related disorder
RS149641207 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS149819328 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS150579291 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS150968594 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
RS1563145763 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1584452484 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1799200073 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1806730582 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1810610818 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1813193919 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1813783655 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS182048899 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS184676617 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
RS185898118 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS187255726 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
RS189083857 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS189151663 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS190695638 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
RS192845338 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
RS193922723 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia, Long QT syndrome
RS199527737 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS199577930 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS199631609 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS199744254 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS199780481 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS199880764 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
RS199909093 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
RS200034525 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS200327385 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
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