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.L581*

c.1742T>A

Surrounding Variants

1 paper

NM_181523.3

p.L581F

c.1743G>C

1 paper

NM_181523.3

p.L581F

c.1743G>T

1 paper

NM_181523.3

p.L581fs

c.1741_1742fs

3 papers

NM_181523.3

p.M582L

c.1744A>C

3 papers

NM_181523.3

p.M582L

c.1744A>T

2 papers

NM_181523.3

p.M582fs

c.1744_1745fs

2 papers

NM_181523.3

p.Y580*

c.1740C>A

2 papers

NM_181523.3

p.Y580*

c.1740C>G

3 papers

NM_181523.3

p.Y580C

c.1739A>G

3 papers

NM_181523.3

p.M582T

c.1745T>C

1 paper

NM_181523.3

p.M582R

c.1745T>G

1 paper

NM_181523.3

p.M582I

c.1746G>A