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.Y452H

c.1354T>C

Surrounding Variants

3 papers

NM_181523.3

p.Y452_N453ins0

c.1356_1358dupTAA

3 papers

NM_181523.3

p.Y452C

c.1355A>G

2 papers

NM_181523.3

p.Y452_Q455delins

c.1355_1365delinsTTCAAGAAAAAAGTTTCTTGAAA

NM_001242466.2

p.Y89_Q92delins

c.266_276delinsTTCAAGAAAAAAGTTTCTTGAAA

2 papers

NM_181523.3

p.Y452del1

c.1354_1355delTAT

1 paper

NM_181523.3

p.Y452_R461del0

c.1354_1383del30

1 paper

NM_181523.3

p.Y452*

c.1356T>A

1 paper

NM_181523.3

p.Y452*

c.1356T>G

7 papers

NM_181523.3

p.N453del1

c.1357_1358delAAC

1 paper

NM_181523.3

p.N453_K459del0

c.1359_1376del18

1 paper

NM_181523.3

p.N453_R461del9

c.1357_1382del27

1 paper

NM_181523.3

p.N453fs

c.1357_1358fs

4 papers

NM_181523.3

p.N453_T454insN

c.1357_1361ins3