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.Q455fs

c.1363_1364fs

Surrounding Variants

1 paper

NM_181523.3

p.Q455_F456ins2

c.1365_1366ins6

1 paper

NM_181523.3

p.Q455fs

c.1363_1364fs

1 paper

NM_181523.3

p.Q455_F456del1

c.1365_1367delGTT

1 paper

NM_181523.3

p.Q455_K459delins

c.1364_1376delinsTTTT

1 paper

NM_181523.3

p.Q455_R461del0

c.1365_1382del18

1 paper

NM_181523.3

p.Q455delFs

c.1363_1364delCA

1 paper

NM_181523.3

p.Q455del1

c.1363_1364delCAG

2 papers

NM_181523.3

p.T454_Q455del1

c.1362_1364delTCA

6 papers

NM_181523.3

p.T454_F456del0

c.1362_1367del6

1 paper

NM_181523.3

p.F456insFs

c.1368dupT

1 paper

NM_181523.3

p.Q455_K459delins

c.1365_1376delinsACC

1 paper

NM_181523.3

p.T454fs

c.1360_1361fs