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PPP1R3B

Synonyms
GL, PPP1R4, PTG
External resources
Summary
This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.

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
8,757
Likely benign
197
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PPP1R3B gene.

Phenotype class
Patients in 3billion (%)

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