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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
21
Likely pathogenic
0
VUS
4,470
Likely benign
357
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carring pathogenic or likely pathogenic variants on PPP1R3F gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
35%
Abnormality of the nervous system
30%
Abnormality of the ear
25%
Abnormality of the musculoskeletal system
25%
Growth abnormality
25%
Abnormality of head or neck
20%
Abnormality of the cardiovascular system
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Abnormality of the integument
10%
Abnormality of blood and blood-forming tissues
5%
Abnormality of limbs
5%
Abnormality of the digestive system
5%
Abnormality of the endocrine system
5%
Abnormality of the thoracic cavity
5%
Neoplasm
5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes