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.D548fs

c.1642_1643fs

Surrounding Variants

1 paper

NM_181523.3

p.D548_L549ins5

c.1642_1646ins15

1 paper

NM_181523.3

p.D548G

c.1643A>G

1 paper

NM_181523.3

p.D548_K550delFs

c.1644_1648del5

1 paper

NM_181523.3

p.E547V

c.1640A>T

1 paper

NM_181523.3

p.E547K

c.1639G>A

1 paper

NM_181523.3

p.E547_L549del3

c.1639_1646del9

1 paper

NM_181523.3

p.E546A

c.1637A>C

1 paper

NM_181523.3

p.E546G

c.1637A>G

1 paper

NM_181523.3

p.E546V

c.1637A>T

1 paper

NM_181523.3

p.K551_Q552ins0

c.1651_1656dup6

1 paper

NM_181523.3

p.K551_Q552del2

c.1651_1655del6

1 paper

NM_181523.3

p.E546Q

c.1636G>C