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PPFIA3

Synonyms
LPNA3
External resources
Summary
The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones.

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
5
Likely pathogenic
0
VUS
15,287
Likely benign
2,577
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on PPFIA3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
60%
Abnormality of the cardiovascular system
40%
Abnormality of the musculoskeletal system
40%
Abnormality of the nervous system
40%
Abnormality of limbs
20%
Abnormality of prenatal development or birth
20%
Abnormality of the ear
20%
Abnormality of the eye
20%
Abnormality of the genitourinary system
20%
Abnormality of the integument
20%
Abnormality of the respiratory system
20%
Constitutional symptom
20%
Growth abnormality
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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