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.N104K

c.312C>G

Surrounding Variants

1 paper

NM_001377334.1

p.N104K

c.312C>A

1 paper

NM_001377334.1

p.G110R

c.328G>A

1 paper

NM_001377334.1

p.S97fs

c.289_290fs

1 paper

NM_001377334.1

p.S97F

c.290C>T

1 paper

NM_001377334.1

p.Q112E

c.334C>G

1 paper

NM_001377334.1

p.L96_S97insFs

c.288_289ins4

3 papers

NM_001377334.1

p.L96L

c.288C>A

1 paper

NM_001377334.1

p.P113S

c.337C>T

1 paper

NM_001377334.1

p.P117S

c.349C>T

1 paper

NM_001377334.1

p.P117A

c.349C>G

1 paper

NM_001377334.1

p.P119S

c.355C>T

1 paper

NM_001377334.1

p.P119A

c.355C>G