Varaico: Literature-Extracted Genetic Variants

Gene:PIK3C2B
Variant:p.N321H

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.N321H
c.961A>C
Surrounding Variants
1 paper
NM_001377334.1
p.A320V
c.959C>T
1 paper
NM_001377334.1
p.P316L
c.947C>T
7 papers
NM_001377334.1
p.R315W
c.943C>T
2 papers
NM_001377334.1
p.E335G
c.1004A>G
1 paper
NM_001377334.1
p.A337V
c.1010C>T
1 paper
NM_001377334.1
p.I345Splc
c.1035-95G>T
1 paper
NM_001377334.1
p.R347*
c.1039C>T
1 paper
NM_001377334.1
p.R347G
c.1039C>G
2 papers
NM_001377334.1
p.R347Q
c.1040G>A
1 paper
NM_001377334.1
p.D351H
c.1051G>C
1 paper
NM_001377334.1
p.V361I
c.1081G>A
1 paper
NM_001377334.1
p.W362*
c.1085G>A
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