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

27 papers

NM_181523.3

p.T576del1

c.1726_1727delACG

Surrounding Variants

2 papers

NM_181523.3

p.K575R

c.1724A>G

1 paper

NM_181523.3

p.T576_M582del0

c.1727_1744del18

1 paper

NM_181523.3

p.K575fs

c.1723_1724fs

1 paper

NM_181523.3

p.K575Q

c.1723A>C

2 papers

NM_181523.3

p.K575fs

c.1723_1724fs

1 paper

NM_181523.3

p.T576insFs

c.1726dupA

1 paper

NM_181504.4

p.T306_R307del2

c.916_920del6

1 paper

NM_181523.3

p.T576_Q579ins1

c.1727_1735dup9

2 papers

NM_181523.3

p.T576ins1

c.1726_1727insCTC

1 paper

NM_181523.3

p.R574_K575ins2

c.1722_1723ins6

5 papers

NM_181504.4

p.T306fs

c.916_917fs

NM_181523.3

p.T576fs

c.1726_1727fs

1 paper

NM_181523.3

p.R574S

c.1722A>C