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.E65K

c.193G>A

Surrounding Variants

1 paper

NM_181523.3

p.E65Q

c.193G>C

2 papers

NM_181523.3

p.E65fs

c.193_194fs

1 paper

NM_181523.3

p.E65*

c.193G>T

2 papers

NM_181523.3

p.E65fs

c.193_194fs

1 paper

NM_181523.3

p.E65G

c.194A>G

1 paper

NM_181523.3

p.R66insFs

c.196_197insG

1 paper

NM_181523.3

p.R66fs

c.196_197fs

1 paper

NM_181523.3

p.R66insFs

c.196_197insT

1 paper

NM_181523.3

p.G67_D68delFs

c.199_202del4

1 paper

NM_181523.3

p.E65_R66del2

c.193_197del6

2 papers

NM_181523.3

p.E65delFs

c.193delG

4 papers

NM_181523.3

p.R66K

c.197G>A