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

4 papers

NM_181523.3

p.G353R

c.1057G>A

Surrounding Variants

4 papers

NM_181523.3

p.G353R

c.1057G>C

1 paper

NM_181523.3

p.G353fs

c.1057_1058fs

2 papers

NM_181523.3

p.G353W

c.1057G>T

1 paper

NM_181523.3

p.G353insFs

c.1059dupG

1 paper

NM_181523.3

p.G353V

c.1058G>T

1 paper

NM_181523.3

p.D352A

c.1055A>C

2 papers

NM_181523.3

p.T354fs

c.1060_1061fs

2 papers

NM_181523.3

p.T354A

c.1060A>G

1 paper

NM_181504.4

p.D82fs

c.244_245fs

2 papers

NM_181523.3

p.T354I

c.1061C>T

1 paper

NM_181523.3

p.A351fs

c.1051_1052fs

1 paper

NM_181523.3

p.F355L

c.1063T>C