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.R82P

c.245G>C

Surrounding Variants

1 paper

NM_001377334.1

p.R82L

c.245G>T

1 paper

NM_001377334.1

p.R82C

c.244C>T

1 paper

NM_001377334.1

p.G83S

c.247G>A

1 paper

NM_001377334.1

p.T76_K79delFs

c.228_235del8

1 paper

NM_001377334.1

p.L78delFs

c.232delG

1 paper

NM_001377334.1

p.G86G

c.258C>G

2 papers

NM_001377334.1

p.D77N

c.229G>A

1 paper

NM_001377334.1

p.D88Y

c.262G>T

1 paper

NM_001377334.1

p.T76I

c.227C>T

3 papers

NM_001377334.1

p.R75W

c.223C>T

1 paper

NM_001377334.1

p.R74G

c.220A>G

1 paper

NM_001377334.1

p.L96_S97insFs

c.288_289ins4