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

7 papers

NM_181523.3

p.I82fs

c.244_245fs

Surrounding Variants

2 papers

NM_181523.3

p.I82V

c.244A>G

2 papers

NM_181523.3

p.I82F

c.244A>T

4 papers

NM_181523.3

p.I82fs

c.244_245fs

1 paper

NM_181523.3

p.K81_P87del0

c.243_260del18

1 paper

NM_181523.3

p.I82M

c.246C>G

1 paper

NM_181523.3

p.S83A

c.247T>G

1 paper

NM_181523.3

p.S83*

c.248C>A

1 paper

NM_181523.3

p.S83L

c.248C>T

1 paper

NM_181523.3

p.K80R

c.239A>G

1 paper

NM_181523.3

p.P84_L95del0

c.251_283del33

1 paper

NM_181523.3

p.K80insFs

c.238_239insG

1 paper

NM_181523.3

p.K80fs

c.238_239fs