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.W333*

c.998G>A

Surrounding Variants

2 papers

NM_181523.3

p.W333*

c.999G>A

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.W333fs

c.997_998fs

3 papers

NM_181523.3

p.Y334S

c.1001A>C

1 paper

NM_181504.4

p.Y64_G66delFs

c.192_196del5

1 paper

NM_181523.3

p.Y334*

c.1002C>A

1 paper

NM_181523.3

p.Y334*

c.1002C>G

3 papers

NM_181523.3

p.E332K

c.994G>A

1 paper

NM_181523.3

p.W335Fs

c.1003delinsGAFs

1 paper

NM_181523.3

p.W335fs

c.1003_1004fs

1 paper

NM_181504.4

p.W65_G66del1

c.195_197delGGG