Home > Gene Browser > PPP1R3F

PPP1R3F

Synonyms
HB2E, LL0XNC01-7P3.1, R3F
External resources
Summary
This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. 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
1,767
Likely benign
946
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PPP1R3F gene.

Phenotype class
Patients in 3billion (%)

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