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

2 papers

NM_181523.3

p.R577_L581del5

c.1729_1742del15

Surrounding Variants

1 paper

NM_181523.3

p.T576M

c.1727C>T

1 paper

NM_181523.3

p.D578delFs

c.1732_1733delGA

1 paper

NM_181523.3

p.T576_R577del1

c.1728_1730delGAG

1 paper

NM_181523.3

p.R577_D578delFs

c.1730_1733del4

1 paper

NM_181523.3

p.T576_Q579ins1

c.1727_1735dup9

2 papers

NM_181523.3

p.T576ins1

c.1726_1727insCTC

5 papers

NM_181504.4

p.T306fs

c.916_917fs

NM_181523.3

p.T576fs

c.1726_1727fs

2 papers

NM_181523.3

p.T576A

c.1726A>G

1 paper

NM_181523.3

p.T576fs

c.1726_1727fs

2 papers

NM_181523.3

p.T576T

c.1728G>A

2 papers

NM_181523.3

p.R577del1

c.1729_1730delAGA

1 paper

NM_181523.3

p.T576_Q579delins

c.1728_1737delinsT