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.L420F

c.1260G>T

Surrounding Variants

1 paper

NM_181523.3

p.L420F

c.1260G>C

1 paper

NM_181504.4

p.D151delFs

c.452_453delAT

1 paper

NM_181504.4

p.D151_L154delFs

c.453_462del10

1 paper

NM_181523.3

p.V422fs

c.1264_1265fs

1 paper

NM_181523.3

p.K423T

c.1268A>C

1 paper

NM_181523.3

p.L424V

c.1270T>G

1 paper

NM_181523.3

p.L424fs

c.1270_1271fs

1 paper

NM_181523.3

p.N417Y

c.1249A>T

1 paper

NM_181523.3

p.L424delFs

c.1272delA

1 paper

NM_181523.3

p.Y416*

c.1248T>A

1 paper

NM_181523.3

p.Y416*

c.1248T>G

1 paper

NM_181523.3

p.Y416F

c.1247A>T