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

1–12 of 565 variants

7 papers

NM_001377334.1

p.R315W

c.943C>T

6 papers

NM_001377334.1

p.R458Q

c.1373G>A

6 papers

NM_001377334.1

p.G750S

c.2248G>A

6 papers

NM_001377334.1

p.R1610H

c.4829G>A

4 papers

NM_001377334.1

p.N232S

c.695A>G

4 papers

NM_001377334.1

p.P273H

c.818C>A

4 papers

NM_001377334.1

p.S1041T

c.3122G>C

3 papers

NM_001377334.1

p.G8E

c.23G>A

3 papers

NM_001377334.1

p.R75W

c.223C>T

3 papers

NM_001377334.1

p.L96L

c.288C>A

3 papers

NM_001377334.1

p.P199P

c.597G>A

3 papers

NM_001377334.1

p.L249V

c.745T>G