Varaico: Literature-Extracted Genetic Variants

PIK3C2B

329 papers

RefSeq Summary

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell sur...

Pfam Domains

PI3K_rbdaa 364–466UCSCPI3-kinase family, ras-binding domain

PI3K_C2aa 648–788UCSCPhosphoinositide 3-kinase C2

PI3Kaaa 808–991UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)

PI3_PI4_kinaseaa 1077–1292UCSCPhosphatidylinositol 3- and 4-kinase

PXaa 1392–1477UCSCPX domain

C2aa 1517–1626UCSCC2 domain

Gene Aliases

HGNC Name

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta

HGNC Alias Symbols

C2-PI3K; PI3K-C2beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377334.1

p.Y289F

c.866A>T

Surrounding Variants

1 paper

NM_001377334.1

p.A290T

c.868G>A

1 paper

NM_001377334.1

p.T288_Y289ins4

c.862_866ins12

2 papers

NM_001377334.1

p.R287fs

c.859_860fs

1 paper

NM_001377334.1

p.R287insFs

c.859dupC

1 paper

NM_001377334.1

p.R287delFs

c.859delG

2 papers

NM_001377334.1

p.R287fs

c.859_860fs

1 paper

NM_001377334.1

p.R292C

c.874C>T

1 paper

NM_001377334.1

p.R292H

c.875G>A

1 paper

NM_001377334.1

p.P285P

c.855C>G

1 paper

NM_001377334.1

p.Q283H

c.849G>T

1 paper

NM_001377334.1

p.Q283H

c.849G>C

1 paper

NM_001377334.1

p.Q283*

c.847C>T