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.G67A

c.200G>C

Surrounding Variants

1 paper

NM_181523.3

p.D68_P70delFs

c.203_210del8

2 papers

NM_181523.3

p.D68fs

c.202_203fs

1 paper

NM_181523.3

p.D68delFs

c.203_204delAC

1 paper

NM_181523.3

p.D68fs

c.202_203fs

4 papers

NM_181523.3

p.R66K

c.197G>A

1 paper

NM_181523.3

p.R66T

c.197G>C

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.D68_F69insFs

c.204_205insA

4 papers

NM_181523.3

p.F69L

c.205T>C