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

2 papers

NM_006219.3

p.P602S

c.1804C>T

Surrounding Variants

1 paper

NM_006219.3

p.P603R

c.1808C>G

4 papers

NM_006219.3

p.R604fs

c.1810_1811fs

3 papers

NM_006219.3

p.P603insFs

c.1809dupC

1 paper

NM_006219.3

p.R604Q

c.1811G>A

3 papers

NM_001256045.2

p.R116delFs

c.346delG

NM_006219.3

p.R604delFs

c.1810delG

3 papers

NM_006219.3

p.R604fs

c.1810_1811fs

NM_001256045.2

p.R116fs

c.346_347fs

1 paper

NM_006219.3

p.Q596H

c.1788G>T

1 paper

NM_006219.3

p.Q596H

c.1788G>C

1 paper

NM_006219.3

p.A593V

c.1778C>T

1 paper

NM_006219.3

p.F612L

c.1834T>C

1 paper

NM_006219.3

p.L591R

c.1772T>G

1 paper

NM_006219.3

p.F612L

c.1836C>G