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

2 papers

NM_181523.3

p.G321D

c.962G>A

Surrounding Variants

5 papers

NM_181523.3

p.G321S

c.961G>A

1 paper

NM_181523.3

p.G321C

c.961G>T

1 paper

NM_181523.3

p.M322insFs

c.965dupT

1 paper

NM_181523.3

p.M322fs

c.964_965fs

1 paper

NM_181523.3

p.N320N

c.960C>T

1 paper

NM_181523.3

p.N320S

c.959A>G

1 paper

NM_181523.3

p.N323D

c.967A>G

1 paper

NM_181523.3

p.N323Y

c.967A>T

1 paper

NM_181523.3

p.N319D

c.955A>G

1 paper

NM_181523.3

p.N324S

c.971A>G

1 paper

NM_181523.3

p.A318delFs

c.953delC

2 papers

NM_181523.3

p.V317I

c.949G>A