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.D21_D28del8

c.61_83del24

Surrounding Variants

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.D21N

c.61G>A

1 paper

NM_181523.3

p.D21A

c.62A>C

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.I22delFs

c.65_66delTT

1 paper

NM_181523.3

p.E19fs

c.55_56fs

5 papers

NM_181523.3

p.I22T

c.65T>C

1 paper

NM_181523.3

p.D23N

c.67G>A

1 paper

NM_181523.3

p.R18I

c.53G>T

1 paper

NM_181523.3

p.D23Y

c.67G>T