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.M1Fs

c.2delinsACATCFs

Surrounding Variants

2 papers

NM_181523.3

p.M1T

c.2T>C

1 paper

NM_181523.3

p.M1Fs

c.2delinsCTGFs

1 paper

NM_181523.3

p.M1R

c.2T>G

1 paper

NM_181523.3

p.M1insFs

c.2_3ins13

1 paper

NM_181523.3

p.M1insFs

c.1_2ins4

1 paper

NM_181523.3

p.M1insFs

c.1_2ins13

3 papers

NM_181523.3

p.M1V

c.1A>G

1 paper

NM_181523.3

p.M1delFs

c.2delT

1 paper

NM_181523.3

p.M1_S2insFs

c.3_4insA

1 paper

NM_181523.3

p.M1_S2insFs

c.3_4insTC

1 paper

NM_181523.3

p.A3T

c.7G>A

1 paper

NM_181523.3

p.A3V

c.8C>T