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.E451_N453delFs

c.1351_1358del8

Surrounding Variants

1 paper

NM_181523.3

p.H450Q

c.1350T>A

1 paper

NM_181523.3

p.H450Q

c.1350T>G

1 paper

NM_181523.3

p.E451del1

c.1351_1352delGAA

1 paper

NM_181523.3

p.E451_F456del0

c.1351_1368del18

1 paper

NM_181523.3

p.E451_Y452delins

c.1351_1354delinsC

2 papers

NM_181523.3

p.E451_Y452del1

c.1352_1354delAAT

3 papers

NM_181523.3

p.E451_N453del0

c.1353_1358del6

1 paper

NM_181523.3

p.Y452_R461del0

c.1354_1383del30

1 paper

NM_181523.3

p.H450Y

c.1348C>T

2 papers

NM_181523.3

p.E451_Y452del0

c.1351_1356del6

3 papers

NM_181523.3

p.H450del1

c.1348_1349delCAT

2 papers

NM_181523.3

p.H450_Y452del3

c.1348_1355del9