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PIK3CB

Synonyms
P110BETA, PI3K, PI3KBETA, PIK3C1
External resources
Summary
This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. 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
0
Likely pathogenic
0
VUS
5,423
Likely benign
2,291
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PIK3CB gene.

Phenotype class
Patients in 3billion (%)

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