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.E408K

c.1222G>A

Surrounding Variants

1 paper

NM_005027.4

p.S409delFs

c.1227delT

3 papers

NM_005027.4

p.R406H

c.1217G>A

2 papers

NM_005027.4

p.Q412*

c.1234C>T

1 paper

NM_005027.4

p.N403I

c.1208A>T

1 paper

NM_005027.4

p.Y413H

c.1237T>C

1 paper

NM_005027.4

p.I402L

c.1204A>C

5 papers

NM_005027.4

p.L401P

c.1202T>C

1 paper

NM_005027.4

p.L401I

c.1201C>A

1 paper

NM_005027.4

p.A415T

c.1243G>A

1 paper

NM_005027.4

p.V399_H404del0

c.1196_1210del15

4 papers

NM_005027.4

p.V398I

c.1192G>A

3 papers

NM_005027.4

p.R420W

c.1258C>T