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.P764S

c.2290C>T

Surrounding Variants

1 paper

NM_001377334.1

p.P764R

c.2291C>G

1 paper

NM_001377334.1

p.N772D

c.2314A>G

1 paper

NM_001377334.1

p.G750D

c.2249G>A

6 papers

NM_001377334.1

p.G750S

c.2248G>A

1 paper

NM_001377334.1

p.T748T

c.2244C>A

1 paper

NM_001377334.1

p.L747L

c.2241G>C

1 paper

NM_001377334.1

p.L747L

c.2239C>T

1 paper

NM_001377334.1

p.Q782_I783Splc

c.2346+168G>A

1 paper

NM_001377334.1

p.Q745Splc

c.2235-221G>A

1 paper

NM_001377334.1

p.Q745Splc

c.2235-247A>C

1 paper

NM_001377334.1

p.Q745Splc

c.2234+9G>A

1 paper

NM_001377334.1

p.G734A

c.2201G>C