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

2 papers

NM_181523.3

p.D330N

c.988G>A

Surrounding Variants

1 paper

NM_181523.3

p.D330G

c.989A>G

1 paper

NM_181523.3

p.Q329L

c.986A>T

2 papers

NM_181523.3

p.Q329fs

c.985_986fs

1 paper

NM_181523.3

p.Q329delFs

c.985delC

1 paper

NM_181523.3

p.A331V

c.992C>T

3 papers

NM_181523.3

p.E332K

c.994G>A

1 paper

NM_181523.3

p.L328_D330del3

c.982_989del9

2 papers

NM_181523.3

p.S327F

c.980C>T

3 papers

NM_181523.3

p.W333R

c.997T>A

3 papers

NM_181523.3

p.W333R

c.997T>C

1 paper

NM_181523.3

p.S327A

c.979T>G

1 paper

NM_181523.3

p.W333fs

c.997_998fs