Varaico: Literature-Extracted Genetic Variants

PIK3CB

390 papers

RefSeq 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 cel...

Pfam Domains

PI3K_p85Baa 42–117UCSCPI3-kinase family, p85-binding domain

PI3K_rbdaa 180–288UCSCPI3-kinase family, ras-binding domain

PI3K_C2aa 347–489UCSCPhosphoinositide 3-kinase C2

PI3Kaaa 526–711UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)

PI3_PI4_kinaseaa 799–1017UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

HGNC Previous Symbol

PIK3C1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006219.3

p.D564E

c.1692C>G

Surrounding Variants

1 paper

NM_006219.3

p.R566*

c.1696C>T

1 paper

NM_006219.3

p.R566Q

c.1697G>A

2 papers

NM_006219.3

p.R562Q

c.1685G>A

2 papers

NM_006219.3

p.R562*

c.1684C>T

1 paper

NM_006219.3

p.L561W

c.1682T>G

1 paper

NM_006219.3

p.F569L

c.1705T>C

1 paper

NM_006219.3

p.T560I

c.1679C>T

1 paper

NM_006219.3

p.F569L

c.1707C>G

1 paper

NM_006219.3

p.F569L

c.1707C>A

1 paper

NM_006219.3

p.Q571Q

c.1713A>G

2 papers

NM_006219.3

p.N553S

c.1658A>G

1 paper

NM_006219.3

p.E552*

c.1654G>T