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ARPP21

Synonyms
ARPP-21, R3HDM3, RCS, TARPP
External resources
Summary
This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants.

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
4,449
Likely benign
479
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ARPP21 gene.

Phenotype class
Patients in 3billion (%)

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