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.A351fs

c.1051_1052fs

Surrounding Variants

1 paper

NM_181523.3

p.T350I

c.1049C>T

2 papers

NM_181523.3

p.T350fs

c.1048_1049fs

1 paper

NM_181523.3

p.T350S

c.1048A>T

1 paper

NM_181504.4

p.D82fs

c.244_245fs

1 paper

NM_181523.3

p.D352A

c.1055A>C

1 paper

NM_181523.3

p.D349V

c.1046A>T

1 paper

NM_181523.3

p.G353insFs

c.1059dupG

4 papers

NM_181523.3

p.G353R

c.1057G>A

4 papers

NM_181523.3

p.G353R

c.1057G>C

1 paper

NM_181523.3

p.G353fs

c.1057_1058fs

3 papers

NM_181523.3

p.D349Y

c.1045G>T

2 papers

NM_181523.3

p.G353W

c.1057G>T