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PPP2R3C

Synonyms
C14orf10, G4-1, G5pr, GDRM, SPGF36
External resources
Summary
This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative 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
9,731
Likely benign
93
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PPP2R3C gene.

Phenotype class
Patients in 3billion (%)

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