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.S399_Y408del0

c.1196_1222del27

Surrounding Variants

1 paper

NM_181523.3

p.S399N

c.1196G>A

1 paper

NM_181523.3

p.S399S

c.1197T>C

1 paper

NM_181523.3

p.F398fs

c.1192_1193fs

1 paper

NM_181523.3

p.S400F

c.1199C>T

1 paper

NM_181523.3

p.V401_E403del3

c.1201_1208del9

1 paper

NM_181523.3

p.S400_Y408delins

c.1200_1223delinsAAC

1 paper

NM_181523.3

p.V402_L404del0

c.1204_1212del9

2 papers

NM_181523.3

p.P395P

c.1185A>G

2 papers

NM_181523.3

p.V402A

c.1205T>C

2 papers

NM_181523.3

p.P395S

c.1183C>T

2 papers

NM_181523.3

p.L404_I405del2

c.1210_1214del6

2 papers

NM_181523.3

p.D394E

c.1182C>A