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.R543_L545del3

c.1627_1634del9

Surrounding Variants

1 paper

NM_181523.3

p.R542T

c.1625G>C

1 paper

NM_181523.3

p.R543I

c.1628G>T

1 paper

NM_181523.3

p.R542del1

c.1624_1626delAGA

1 paper

NM_181523.3

p.R544ins1

c.1630_1631insGAT

1 paper

NM_181523.3

p.R544G

c.1630A>G

1 paper

NM_181523.3

p.R544*

c.1630A>T

1 paper

NM_181523.3

p.D540E

c.1620C>A

1 paper

NM_181523.3

p.L545*

c.1634T>A

1 paper

NM_181523.3

p.L545F

c.1635G>C

1 paper

NM_181523.3

p.K551_Q552insFs

c.1653_1654ins11

2 papers

NM_181523.3

p.L545F

c.1635G>T

1 paper

NM_181523.3

p.E546del1

c.1636_1637delGAA