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.D615Y

c.1843G>T

Surrounding Variants

1 paper

NM_181523.3

p.E614G

c.1841A>G

2 papers

NM_181523.3

p.P617R

c.1850C>G

1 paper

NM_181523.3

p.D612N

c.1834G>A

1 paper

NM_181523.3

p.H618P

c.1853A>C

1 paper

NM_181523.3

p.D613del1

c.1837_1838delGAT

1 paper

NM_181523.3

p.E611K

c.1831G>A

1 paper

NM_181523.3

p.E611_D612insTCC

c.1831_1835ins9

1 paper

NM_181523.3

p.H619R

c.1856A>G

1 paper

NM_181523.3

p.V610G

c.1829T>G

1 paper

NM_181523.3

p.S608insFs

c.1823_1824ins4

1 paper

NM_181523.3

p.L609_E611del3

c.1825_1832del9

1 paper

NM_181523.3

p.S608fs

c.1822_1823fs