Varaico: Literature-Extracted Genetic Variants

Gene:PIK3C2B
Variant:p.N232S

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
4 papers
NM_001377334.1
p.N232S
c.695A>G
Surrounding Variants
2 papers
NM_001377334.1
p.N232del1
c.694_696delATT
1 paper
NM_001377334.1
p.D229G
c.686A>G
1 paper
NM_001377334.1
p.D229Y
c.685G>T
1 paper
NM_001377334.1
p.Y228_I235del8
c.682_704del24
1 paper
NM_001377334.1
p.R237M
c.710G>T
1 paper
NM_001377334.1
p.D227V
c.680A>T
1 paper
NM_001377334.1
p.D227N
c.679G>A
1 paper
NM_001377334.1
p.S242L
c.725C>T
1 paper
NM_001377334.1
p.T243S
c.727A>T
1 paper
NM_001377334.1
p.T243S
c.728C>G
1 paper
NM_001377334.1
p.R221C
c.661C>T
1 paper
NM_001377334.1
p.Y244C
c.731A>G
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