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

6 papers

NM_181523.3

p.Q572*

c.1714C>T

Surrounding Variants

1 paper

NM_181523.3

p.Q572R

c.1715A>G

1 paper

NM_181523.3

p.L573del1

c.1717_1719delCTG

1 paper

NM_181523.3

p.Q572insFs

c.1715_1716insCA

1 paper

NM_181523.3

p.I571I

c.1713C>T

1 paper

NM_181523.3

p.Q572_R574del3

c.1714_1721del9

1 paper

NM_181523.3

p.I571_T576del0

c.1713_1727del15

2 papers

NM_181523.3

p.I571fs

c.1711_1712fs

3 papers

NM_181523.3

p.I571fs

c.1711_1712fs

1 paper

NM_181523.3

p.L573M

c.1717C>A

1 paper

NM_181523.3

p.L573_K575ins1

c.1718_1723dup6

1 paper

NM_181523.3

p.L573_R577del0

c.1718_1729del12

12 papers

NM_181523.3

p.L573P

c.1718T>C