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

6 papers

NM_181523.3

p.Y73*

c.219C>G

Surrounding Variants

6 papers

NM_181523.3

p.Y73*

c.219C>A

1 paper

NM_181523.3

p.Y73Fs

c.219delinsGGFs

8 papers

NM_181523.3

p.Y73Y

c.219C>T

1 paper

NM_181523.3

p.V74delFs

c.220delG

1 paper

NM_181523.3

p.Y73C

c.218A>G

2 papers

NM_181523.3

p.Y73F

c.218A>T

3 papers

NM_181523.3

p.V74I

c.220G>A

1 paper

NM_181523.3

p.V74L

c.220G>T

1 paper

NM_181523.3

p.V74A

c.221T>C

3 papers

NM_181523.3

p.Y73insFs

c.218dupA

1 paper

NM_181523.3

p.Y73delFs

c.217_218delTA

1 paper

NM_181523.3

p.E75Q

c.223G>C