The PRKAR1A gene homepage

General information
Gene symbol PRKAR1A
Gene name protein kinase, cAMP-dependent, regulatory, type I, alpha
Chromosome 17
Chromosomal band q23-q24
Imprinted Unknown
Genomic reference LRG_514
Transcript reference NM_002734.4
Exon/intron information NM_002734.4 exon/intron table
Associated with diseases ACRDYS-1, CNC-1, NMTC-1, PPNAD-1, myxoma, intracardiac
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Guiomar Perez de Nanclares, Francesca Marta Elli and Giovanna Mantovani
Total number of public variants reported 47
Unique public DNA variants reported 24
Individuals with public variants 60
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated October 20, 2020
Version PRKAR1A:201020

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002734.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 9388
Entrez Gene 5573
PubMed articles PRKAR1A
OMIM - Gene 188830
OMIM - Diseases ACRDYS-1 (acrodysostosis, with/without hormone resistance (ACRDYS-1))
CNC-1 (Carney complex, type 1 (CNC-1))
NMTC-1 (cancer, thyroid, nonmedullary, type 1 (NMTC-1, papillary thyroid carcinoma))
PPNAD-1 (adrenocortical disease, nodular, pigmented, primary, type 1 (PPNAD-1))
myxoma, intracardiac
GeneCards PRKAR1A
GeneTests PRKAR1A

Active transcripts




NCBI ID     

NCBI Protein ID     

00024160 17 transcript variant 1 NM_002734.4 NP_002725.1 47

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.