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.A98_P99delFs

c.292_295del4

Surrounding Variants

1 paper

NM_181523.3

p.V97V

c.291T>C

1 paper

NM_181523.3

p.A98_P99del1

c.293_295delCAC

1 paper

NM_181523.3

p.V97A

c.290T>C

2 papers

NM_181523.3

p.A98V

c.293C>T

1 paper

NM_181523.3

p.P99_K103del5

c.295_308del15

1 paper

NM_181523.3

p.P99delFs

c.295delC

1 paper

NM_181523.3

p.P96ins6

c.287_288ins18

1 paper

NM_181523.3

p.P99A

c.295C>G

1 paper

NM_181523.3

p.P99S

c.295C>T

1 paper

NM_181523.3

p.P99delFs

c.296_297delCA

1 paper

NM_181523.3

p.P99_S101delFs

c.296_303del8

1 paper

NM_181523.3

p.P96fs

c.286_287fs