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.R18I

c.53G>T

Surrounding Variants

2 papers

NM_181523.3

p.R18*

c.52A>T

1 paper

NM_181523.3

p.E19fs

c.55_56fs

1 paper

NM_181523.3

p.E19insFs

c.56_57ins4

1 paper

NM_181523.3

p.E19A

c.56A>C

1 paper

NM_181523.3

p.E17V

c.50A>T

7 papers

NM_181523.3

p.E17K

c.49G>A

1 paper

NM_181523.3

p.E17fs

c.49_50fs

1 paper

NM_181523.3

p.K16N

c.48G>C

1 paper

NM_181523.3

p.K16N

c.48G>T

1 paper

NM_181523.3

p.E20A

c.59A>C

2 papers

NM_181523.3

p.E20V

c.59A>T

1 paper

NM_181523.3

p.K16M

c.47A>T