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.D1067A

c.3200A>C

Surrounding Variants

28 papers

NM_006219.3

p.D1067V

c.3200A>T

7 papers

NM_006219.3

p.D1067Y

c.3199G>T

2 papers

NM_006219.3

p.D1067H

c.3199G>C

1 paper

NM_006219.3

p.R1069R

c.3205A>C

1 paper

NM_006219.3

p.R1069I

c.3206G>T

1 paper

NM_006219.3

p.R1069S

c.3207A>T

1 paper

NM_006219.3

p.R1069S

c.3207A>C

1 paper

NM_006219.3

p.S1070Y

c.3209C>A

1 paper

NM_006219.3

p.T1054P

c.3160A>C

1 paper

NM_006219.3

p.W1053L

c.3158G>T

1 paper

NM_006219.3

p.S1052R

c.3156C>G

1 paper

NM_006219.3

p.S1052R

c.3156C>A