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.R571C

c.1711C>T

Surrounding Variants

1 paper

NM_005027.4

p.R571H

c.1712G>A

1 paper

NM_005027.4

p.L570L

c.1708C>T

1 paper

NM_005027.4

p.Q569*

c.1705C>T

1 paper

NM_005027.4

p.I573T

c.1718T>C

1 paper

NM_005027.4

p.M568L

c.1702A>C

1 paper

NM_005027.4

p.M568V

c.1702A>G

1 paper

NM_005027.4

p.M568L

c.1702A>T

2 papers

NM_005027.4

p.R574fs

c.1720_1721fs

1 paper

NM_005027.4

p.R574*

c.1720C>T

2 papers

NM_005027.4

p.R574Q

c.1721G>A

1 paper

NM_005027.4

p.D575N

c.1723G>A

1 paper

NM_005027.4

p.D575Y

c.1723G>T