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.S565G

c.1693A>G

Surrounding Variants

1 paper

NM_181523.3

p.S565fs

c.1693_1694fs

4 papers

NM_181523.3

p.S565R

c.1693A>C

30 papers

NM_181523.3

p.N564K

c.1692C>A

31 papers

NM_181523.3

p.N564K

c.1692C>G

1 paper

NM_181523.3

p.S565N

c.1694G>A

1 paper

NM_181523.3

p.S565insFs

c.1694_1695insA

3 papers

NM_181523.3

p.S565I

c.1694G>T

1 paper

NM_181523.3

p.I566_D578del0

c.1696_1734del39

4 papers

NM_181523.3

p.S565R

c.1695C>A

4 papers

NM_181523.3

p.S565R

c.1695C>G

2 papers

NM_181523.3

p.I566del1

c.1696_1697delATT

1 paper

NM_181523.3

p.I566_K567del2

c.1696_1700del6