Home > Gene Browser > PPP1R1B

PPP1R1B

Synonyms
DARPP-32, DARPP32
External resources
Summary
This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,128
Likely benign
623
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PPP1R1B gene.

Phenotype class
Patients in 3billion (%)

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