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

1 paper

NM_006219.3

p.R752W

c.2254C>T

Surrounding Variants

2 papers

NM_006219.3

p.R752L

c.2255G>T

1 paper

NM_006219.3

p.L746_A750del0

c.2236_2250del15

1 paper

NM_006219.3

p.A754V

c.2261C>T

1 paper

NM_006219.3

p.A741V

c.2222C>T

1 paper

NM_006219.3

p.I767F

c.2299A>T

1 paper

NM_006219.3

p.K737E

c.2209A>G

1 paper

NM_006219.3

p.L768F

c.2302C>T

2 papers

NM_006219.3

p.S769*

c.2306C>G

2 papers

NM_006219.3

p.S769*

c.2306C>A

1 paper

NM_006219.3

p.E770_L771ins1

c.2310_2311insGGT

2 papers

NM_006219.3

p.V731M

c.2191G>A

1 paper

NM_006219.3

p.N729Y

c.2185A>T