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.M525I

c.1575G>C

Surrounding Variants

1 paper

NM_181523.3

p.M525I

c.1575G>A

1 paper

NM_181523.3

p.M525I

c.1575G>T

1 paper

NM_181523.3

p.H526R

c.1577A>G

1 paper

NM_181523.3

p.I524N

c.1571T>A

1 paper

NM_181523.3

p.N527K

c.1581T>A

1 paper

NM_181523.3

p.N527K

c.1581T>G

1 paper

NM_181523.3

p.R523Splc

c.1569-1G>A

1 paper

NM_181523.3

p.Y528F

c.1583A>T

1 paper

NM_181523.3

p.Y528*

c.1584T>A

1 paper

NM_181523.3

p.Y528*

c.1584T>G

2 papers

NM_181523.3

p.D529N

c.1585G>A

2 papers

NM_181523.3

p.D529G

c.1586A>G