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PIK3R3

Synonyms
p55, p55-GAMMA, p55PIK
External resources
Summary
Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity.

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
24
Likely pathogenic
0
VUS
3,508
Likely benign
721
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on PIK3R3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.4%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
19%
Abnormality of the eye
19%
Abnormality of the digestive system
14.3%
Abnormality of limbs
9.5%
Abnormality of the ear
9.5%
Abnormality of the genitourinary system
9.5%
Abnormality of the immune system
9.5%
Abnormality of the integument
9.5%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the cardiovascular system
4.8%
Growth abnormality
4.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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