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.E458*

c.1372G>T

Surrounding Variants

1 paper

NM_181523.3

p.E458Q

c.1372G>C

3 papers

NM_181523.3

p.E458insFs

c.1372_1373insA

1 paper

NM_181523.3

p.K459_S460ins0

c.1376_1378dupAAA

1 paper

NM_181523.3

p.S460delFs

c.1378delA

7 papers

NM_181523.3

p.K459del1

c.1375_1376delAAA

1 paper

NM_181523.3

p.E458_D464ins2

c.1374_1391dup18

1 paper

NM_181523.3

p.E458G

c.1373A>G

1 paper

NM_181523.3

p.E458_D464del0

c.1374_1391del18

1 paper

NM_181523.3

p.Q457P

c.1370A>C

2 papers

NM_181523.3

p.K459E

c.1375A>G

1 paper

NM_181523.3

p.Q457fs

c.1369_1370fs

2 papers

NM_181523.3

p.E458del1

c.1372_1374delGAA