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.L408W

c.1223T>G

Surrounding Variants

2 papers

NM_006219.3

p.K412T

c.1235A>C

3 papers

NM_006219.3

p.T413M

c.1238C>T

1 paper

NM_006219.3

p.T417A

c.1249A>G

1 paper

NM_006219.3

p.R399Q

c.1196G>A

1 paper

NM_006219.3

p.T417M

c.1250C>T

1 paper

NM_006219.3

p.A398V

c.1193C>T

1 paper

NM_006219.3

p.A398T

c.1192G>A

1 paper

NM_006219.3

p.M397L

c.1189A>T

1 paper

NM_006219.3

p.M397V

c.1189A>G

1 paper

NM_006219.3

p.M397L

c.1189A>C

2 papers

NM_006219.3

p.R396K

c.1187G>A

3 papers

NM_006219.3

p.N421H

c.1261A>C