Varaico: Literature-Extracted Genetic Variants

PIK3R1

1,646 papers

RefSeq Summary

Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 5...

Pfam Domains

RhoGAPaa 129–277UCSCRhoGAP domain

SH2aa 333–408UCSCSH2 domain

PI3K_P85_iSH2aa 431–599UCSCPhosphatidylinositol 3-kinase regulatory subunit P85 inter-SH2 domain

SH2aa 624–698UCSCSH2 domain

Gene Aliases

HGNC Name

phosphoinositide-3-kinase regulatory subunit 1

HGNC Alias Symbols

p85-ALPHA; p85; p85alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181523.3

p.A48V

c.143C>T

Surrounding Variants

1 paper

NM_181523.3

p.A48delFs

c.143_144delCC

1 paper

NM_181523.3

p.A48_P50del3

c.142_149del9

1 paper

NM_181523.3

p.R49insFs

c.146_147insA

1 paper

NM_181523.3

p.E47K

c.139G>A

1 paper

NM_181523.3

p.Q46insFs

c.137dupA

3 papers

NM_181523.3

p.Q46*

c.136C>T

1 paper

NM_181523.3

p.Q46delFs

c.136_137delCA

1 paper

NM_181523.3

p.E51D

c.153A>T

1 paper

NM_181523.3

p.G45*

c.133G>T

1 paper

NM_181523.3

p.G45delFs

c.134_135delGA

2 papers

NM_181523.3

p.E52K

c.154G>A

3 papers

NM_181523.3

p.E52*

c.154G>T