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.R547P

c.1640G>C

Surrounding Variants

2 papers

NM_005027.4

p.R547L

c.1640G>T

1 paper

NM_005027.4

p.L546L

c.1638G>C

1 paper

NM_005027.4

p.L546M

c.1636C>A

1 paper

NM_005027.4

p.L546V

c.1636C>G

2 papers

NM_005027.4

p.Q545P

c.1634A>C

1 paper

NM_005027.4

p.E543K

c.1627G>A

1 paper

NM_005027.4

p.S551_N561Fs

c.1653_1683delinsTGAATFs

1 paper

NM_005027.4

p.D552Y

c.1654G>T

1 paper

NM_005027.4

p.T540M

c.1619C>T

11 papers

NM_005027.4

p.D557H

c.1669G>C

9 papers

NM_005027.4

p.D557Y

c.1669G>T

1 paper

NM_005027.4

p.D557E

c.1671C>A