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.K633_L638del6

c.1897_1913del18

Surrounding Variants

1 paper

NM_181523.3

p.N632I

c.1895A>T

13 papers

NM_181523.3

p.R631Q

c.1892G>A

1 paper

NM_181523.3

p.A634P

c.1900G>C

1 paper

NM_181523.3

p.R631_N632ins6

c.1891_1895ins18

3 papers

NM_181523.3

p.R631*

c.1891C>T

1 paper

NM_181523.3

p.R631_K633del3

c.1891_1898del9

1 paper

NM_181523.3

p.E635K

c.1903G>A

1 paper

NM_181523.3

p.E635*

c.1903G>T

3 papers

NM_181523.3

p.N636delFs

c.1906_1907delAA

1 paper

NM_181523.3

p.N636_L638del3

c.1906_1913del9

1 paper

NM_181523.3

p.N630_L638del9

c.1888_1913del27

4 papers

NM_181523.3

p.N636insFs

c.1906_1907insC