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

3 papers

NM_181523.3

p.S460fs

c.1378_1379fs

Surrounding Variants

1 paper

NM_181523.3

p.K459_S460ins2

c.1377_1378ins6

1 paper

NM_181523.3

p.S460del1

c.1378_1379delAGT

1 paper

NM_181523.3

p.S460N

c.1379G>A

1 paper

NM_181523.3

p.K459R

c.1376A>G

1 paper

NM_181523.3

p.R461del1

c.1381_1382delCGA

2 papers

NM_181523.3

p.K459E

c.1375A>G

17 papers

NM_181523.3

p.R461*

c.1381C>T

1 paper

NM_181523.3

p.E462delFs

c.1384_1385delGA

2 papers

NM_181523.3

p.E462_R465del0

c.1384_1395del12

1 paper

NM_181523.3

p.R461ins7

c.1382_1383ins21

1 paper

NM_181523.3

p.E462del1

c.1384_1385delGAA

1 paper

NM_181504.4

p.E192_L196del5

c.574_587del15