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.S721P

c.2161T>C

Surrounding Variants

1 paper

NM_001377334.1

p.P717fs

c.2149_2150fs

2 papers

NM_001377334.1

p.P717L

c.2150C>T

1 paper

NM_001377334.1

p.P716insFs

c.2147_2148insC

2 papers

NM_001377334.1

p.P716fs

c.2146_2147fs

3 papers

NM_001377334.1

p.P716delFs

c.2147delG

1 paper

NM_001377334.1

p.P716A

c.2146C>G

1 paper

NM_001377334.1

p.P716fs

c.2146_2147fs

1 paper

NM_001377334.1

p.R727W

c.2179C>T

1 paper

NM_001377334.1

p.I714T

c.2141T>C

1 paper

NM_001377334.1

p.R728Q

c.2183G>A

1 paper

NM_001377334.1

p.E731Q

c.2191G>C

1 paper

NM_001377334.1

p.Y710C

c.2129A>G