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

63 papers

NM_181523.3

p.M326I

c.978G>C

Surrounding Variants

64 papers

NM_181523.3

p.M326I

c.978G>A

63 papers

NM_181523.3

p.M326I

c.978G>T

1 paper

NM_181523.3

p.S327_Q329del3

c.979_986del9

1 paper

NM_181523.3

p.S327A

c.979T>G

2 papers

NM_181523.3

p.M326V

c.976A>G

1 paper

NM_181523.3

p.M326fs

c.976_977fs

2 papers

NM_181523.3

p.S327F

c.980C>T

1 paper

NM_181523.3

p.L328_D330del3

c.982_989del9

1 paper

NM_181523.3

p.Q329delFs

c.985delC

1 paper

NM_181523.3

p.N324S

c.971A>G

2 papers

NM_181523.3

p.Q329fs

c.985_986fs

1 paper

NM_181523.3

p.Q329L

c.986A>T