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PPP1R3A

Synonyms
GM, PP1G, PPP1R3
External resources
Summary
The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase.

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
385
Likely benign
849
Benign
628

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PPP1R3A gene.

Phenotype class
Patients in 3billion (%)

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