PRKAR1A gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

PRKAR1A (protein kinase cAMP-dependent type I regul...)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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PRKAR1A gene homepage

General information
Gene symbol	PRKAR1A
Gene name	protein kinase cAMP-dependent type I regulatory subunit alpha
Chromosome	17
Chromosomal band	q24.2
Imprinted	Unknown
Genomic reference	LRG_514
Transcript reference	NM_001276289.1, NM_001276290.1, NM_002734.4, NM_212471.2, NM_212472.2
Associated with diseases	ACRDYS1, CNC1, InCardMyx, PPNAD1
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	101
Unique public DNA variants reported	34
Individuals with public variants	98
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 20, 2020
Version	PRKAR1A:200520

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
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
HGNC	9388
Entrez Gene	5573
PubMed articles	PRKAR1A
OMIM - Gene	188830
OMIM - Diseases	ACRDYS1 (Acrodysostosis 1, with or without hormone resistance) CNC1 (Carney complex, type 1) InCardMyx (Myxoma, intracardiac) PPNAD1 (Pigmented nodular adrenocortical disease, primary, 1)

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000165	17	protein kinase, cAMP-dependent, regulatory, type I, alpha, transcript variant 4	NM_001276289.1	NP_001263218.1	101
00000166	17	protein kinase, cAMP-dependent, regulatory, type I, alpha, transcript variant 5	NM_001276290.1	NP_001263219.1	101
00000167	17	protein kinase, cAMP-dependent, regulatory, type I, alpha, transcript variant 1	NM_002734.4	NP_002725.1	101
00000168	17	protein kinase, cAMP-dependent, regulatory, type I, alpha, transcript variant 2	NM_212471.2	NP_997636.1	101
00000169	17	protein kinase, cAMP-dependent, regulatory, type I, alpha, transcript variant 3	NM_212472.2	NP_997637.1	101

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