Varaico: Literature-Extracted Genetic Variants

Gene:PIK3C2B
Variant:p.R1052G

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.R1052G
c.3154A>G
Surrounding Variants
1 paper
NM_001377334.1
p.P1051S
c.3151C>T
1 paper
NM_001377334.1
p.G1048R
c.3142G>C
1 paper
NM_001377334.1
p.G1048R
c.3142G>A
1 paper
NM_001377334.1
p.K1047R
c.3140A>G
4 papers
NM_001377334.1
p.S1041T
c.3122G>C
1 paper
NM_001377334.1
p.S1041G
c.3121A>G
2 papers
NM_001377334.1
p.F1029L
c.3087C>G
2 papers
NM_001377334.1
p.F1029L
c.3087C>A
2 papers
NM_001377334.1
p.F1029L
c.3085T>C
1 paper
NM_001377334.1
p.R1020R
c.3060C>T
1 paper
NM_001377334.1
p.L1019I
c.3055C>A
1 paper
NM_001377334.1
p.Q1016_G1017Splc
c.3049-181G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."