Varaico: Literature-Extracted Genetic Variants

Gene:PIK3C2B
Variant:p.S3delins

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.S3delins
c.7delinsA
Surrounding Variants
2 papers
NM_001377334.1
p.S3L
c.8C>T
1 paper
NM_001377334.1
p.S3delins
c.7delinsT
1 paper
NM_001377334.1
p.M1delFs
c.1_2delAT
1 paper
NM_001377334.1
p.T4T
c.12T>C
1 paper
NM_001377334.1
p.M1L
c.1A>T
1 paper
NM_001377334.1
p.N7S
c.20A>G
1 paper
NM_001377334.1
p.N7T
c.20A>C
3 papers
NM_001377334.1
p.G8E
c.23G>A
1 paper
NM_001377334.1
p.V17_G18del2
c.49_53del6
2 papers
NM_001377334.1
p.R21H
c.62G>A
1 paper
NM_001377334.1
p.R21delFs
c.62delC
2 papers
NM_001377334.1
p.K22insFs
c.66dupA
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