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.W381*

c.1142G>A

Surrounding Variants

1 paper

NM_006219.3

p.W381*

c.1143G>A

1 paper

NM_006219.3

p.N377fs

c.1129_1130fs

1 paper

NM_006219.3

p.G375W

c.1123G>T

1 paper

NM_006219.3

p.V373I

c.1117G>A

1 paper

NM_006219.3

p.I391M

c.1173T>G

1 paper

NM_006219.3

p.I391I

c.1173T>C

1 paper

NM_006219.3

p.V369L

c.1105G>T

1 paper

NM_006219.3

p.V369L

c.1105G>C

1 paper

NM_006219.3

p.V369I

c.1105G>A

2 papers

NM_006219.3

p.R396K

c.1187G>A

1 paper

NM_006219.3

p.M397L

c.1189A>T

1 paper

NM_006219.3

p.M397V

c.1189A>G