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

1–12 of 444 variants

28 papers

NM_006219.3

p.D1067V

c.3200A>T

21 papers

NM_006219.3

p.E1051K

c.3151G>A

8 papers

NM_006219.3

p.K805R

c.2414A>G

7 papers

NM_006219.3

p.D1067Y

c.3199G>T

6 papers

NM_006219.3

p.E552K

c.1654G>A

5 papers

NM_006219.3

p.R321Q

c.962G>A

5 papers

NM_006219.3

p.E633K

c.1897G>A

5 papers

NM_006219.3

p.A1048V

c.3143C>T

4 papers

NM_006219.3

p.R604fs

c.1810_1811fs

4 papers

NM_006219.3

p.N717S

c.2150A>G

3 papers

NM_006219.3

p.R270W

c.808C>T

3 papers

NM_006219.3

p.T413M

c.1238C>T