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.S43R

c.127A>C

Surrounding Variants

1 paper

NM_181523.3

p.S43G

c.127A>G

1 paper

NM_181523.3

p.S43R

c.129T>A

1 paper

NM_181523.3

p.S43R

c.129T>G

1 paper

NM_181523.3

p.D44delFs

c.130delG

1 paper

NM_181523.3

p.D44V

c.131A>T

1 paper

NM_181523.3

p.F42del1

c.124_126delTTC

1 paper

NM_181523.3

p.G41*

c.121G>T

1 paper

NM_181523.3

p.G45*

c.133G>T

1 paper

NM_181523.3

p.G45delFs

c.134_135delGA

1 paper

NM_181523.3

p.G41_F42del1

c.122_124delGAT

1 paper

NM_181523.3

p.Q46delFs

c.136_137delCA

1 paper

NM_181523.3

p.G41_F42del2

c.121_125del6