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PRKAR1B

Synonyms
PRKAR1
External resources
Summary
The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
2
Likely pathogenic
0
VUS
6,051
Likely benign
10,060
Benign
61

Patient phenotypes

Proportions of phenotypes among 2 patients carring pathogenic or likely pathogenic variants on PRKAR1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
100%
Abnormality of head or neck
50%
Abnormality of limbs
50%
Abnormality of the endocrine system
50%
Abnormality of the eye
50%
Abnormality of the integument
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormality of the respiratory system
50%
Growth abnormality
50%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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