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.E774Q

c.2320G>C

Surrounding Variants

1 paper

NM_006219.3

p.E774A

c.2321A>C

1 paper

NM_006219.3

p.M779V

c.2335A>G

1 paper

NM_006219.3

p.D780Y

c.2338G>T

1 paper

NM_006219.3

p.M783I

c.2349G>T

1 paper

NM_006219.3

p.M783I

c.2349G>C

1 paper

NM_006219.3

p.M783I

c.2349G>A

1 paper

NM_006219.3

p.N791S

c.2372A>G

1 paper

NM_006219.3

p.N792fs

c.2374_2375fs

1 paper

NM_006219.3

p.N792_K793delFs

c.2376_2377delTG

1 paper

NM_006219.3

p.E797G

c.2390A>G

1 paper

NM_006219.3

p.G801E

c.2402G>A

1 paper

NM_006219.3

p.F804fs

c.2410_2411fs