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.N437Splc

c.1311-49G>C

Surrounding Variants

1 paper

NM_001377334.1

p.N437Splc

c.1311-14C>T

1 paper

NM_001377334.1

p.H439R

c.1316A>G

1 paper

NM_001377334.1

p.L441F

c.1323G>T

1 paper

NM_001377334.1

p.L441F

c.1323G>C

1 paper

NM_001377334.1

p.S443I

c.1328G>T

1 paper

NM_001377334.1

p.R451H

c.1352G>A

1 paper

NM_001377334.1

p.I455T

c.1364T>C

6 papers

NM_001377334.1

p.R458Q

c.1373G>A

3 papers

NM_001377334.1

p.R468C

c.1402C>T

1 paper

NM_001377334.1

p.R468S

c.1402C>A

1 paper

NM_001377334.1

p.S469R

c.1405A>C

1 paper

NM_001377334.1

p.S469R

c.1407T>G