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.P309_P312delFs

c.926_935del10

Surrounding Variants

1 paper

NM_181523.3

p.P309_P311delFs

c.925_932del8

1 paper

NM_181523.3

p.P309fs

c.925_926fs

1 paper

NM_181523.3

p.P308T

c.922C>A

1 paper

NM_181523.3

p.P308A

c.922C>G

1 paper

NM_181523.3

p.P308S

c.922C>T

1 paper

NM_181523.3

p.P309L

c.926C>T

1 paper

NM_181523.3

p.P308_K310del0

c.923_928del6

1 paper

NM_181504.4

p.P38delFs

c.112_113delCC

1 paper

NM_181523.3

p.P308_K310del3

c.922_929del9

1 paper

NM_181523.3

p.L307_K310del0

c.920_928del9

1 paper

NM_181523.3

p.A306E

c.917C>A

1 paper

NM_181523.3

p.P311A

c.931C>G