Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R2
Variant:p.Q227*

PIK3R2

732 papers

RefSeq Summary

Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions...

Pfam Domains

RhoGAPaa 125–259UCSCRhoGAP domain
SH2aa 330–405UCSCSH2 domain
PI3K_P85_iSH2aa 428–596UCSCPhosphatidylinositol 3-kinase regulatory subunit P85 inter-SH2 domain
SH2aa 622–696UCSCSH2 domain

Gene Aliases

HGNC Name

phosphoinositide-3-kinase regulatory subunit 2

HGNC Alias Symbols

P85B; p85; p85beta; p85-BETA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005027.4
p.Q227*
c.679C>T
Surrounding Variants
2 papers
NM_005027.4
p.G230C
c.688G>T
1 paper
NM_005027.4
p.V232M
c.694G>A
12 papers
NM_005027.4
p.S234R
c.700A>C
11 papers
NM_005027.4
p.S234R
c.702C>A
11 papers
NM_005027.4
p.S234R
c.702C>G
1 paper
NM_005027.4
p.A219T
c.655G>A
1 paper
NM_005027.4
p.R218P
c.653G>C
1 paper
NM_005027.4
p.R218C
c.652C>T
1 paper
NM_005027.4
p.A236T
c.706G>A
1 paper
NM_005027.4
p.A236S
c.706G>T
1 paper
NM_005027.4
p.H217L
c.650A>T
1 paper
NM_005027.4
p.L214L
c.640C>T
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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."