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.Q110delFs

c.328delC

Surrounding Variants

1 paper

NM_181523.3

p.Q110fs

c.328_329fs

1 paper

NM_181523.3

p.Q110_Q111ins8

c.328_332ins24

2 papers

NM_181523.3

p.Q110*

c.328C>T

1 paper

NM_181523.3

p.E109*

c.325G>T

1 paper

NM_181523.3

p.E109_Q110del1

c.327_329delACA

2 papers

NM_181523.3

p.Q110Q

c.330A>G

1 paper

NM_181523.3

p.E109del1

c.325_326delGAA

1 paper

NM_181523.3

p.E109_Q110del2

c.325_329del6

1 paper

NM_181523.3

p.A112T

c.334G>A

1 paper

NM_181523.3

p.D107N

c.319G>A

1 paper

NM_181523.3

p.D107H

c.319G>C

2 papers

NM_181523.3

p.D107Y

c.319G>T