Varaico: Literature-Extracted Genetic Variants

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.T73S

c.217A>T

Surrounding Variants

1 paper

NM_005027.4

p.T73S

c.218C>G

1 paper

NM_005027.4

p.T73I

c.218C>T

1 paper

NM_005027.4

p.E76K

c.226G>A

1 paper

NM_005027.4

p.E76Q

c.226G>C

1 paper

NM_005027.4

p.E76D

c.228G>C

1 paper

NM_005027.4

p.E76D

c.228G>T

1 paper

NM_005027.4

p.D69fs

c.205_206fs

1 paper

NM_005027.4

p.G68_D69insFs

c.204_205insC

1 paper

NM_005027.4

p.R67Q

c.200G>A

1 paper

NM_005027.4

p.R67*

c.199C>T

1 paper

NM_005027.4

p.G79E

c.236G>A

1 paper

NM_005027.4

p.G79G

c.237G>C