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.C286R

c.856T>C

Surrounding Variants

1 paper

NM_006219.3

p.C287S

c.859T>A

2 papers

NM_006219.3

p.E285K

c.853G>A

2 papers

NM_006219.3

p.K290N

c.870G>T

2 papers

NM_006219.3

p.K290N

c.870G>C

1 paper

NM_006219.3

p.M292T

c.875T>C

1 paper

NM_006219.3

p.E294*

c.880G>T

2 papers

NM_006219.3

p.E294Q

c.880G>C

1 paper

NM_006219.3

p.E294K

c.880G>A

1 paper

NM_006219.3

p.Q295L

c.884A>T

1 paper

NM_006219.3

p.E296K

c.886G>A

1 paper

NM_006219.3

p.N275K

c.825C>G

1 paper

NM_006219.3

p.N275K

c.825C>A