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.D13Y

c.37G>T

Surrounding Variants

2 papers

NM_181523.3

p.D13N

c.37G>A

1 paper

NM_181523.3

p.D13fs

c.37_38fs

1 paper

NM_181523.3

p.Y14insFs

c.40dupT

2 papers

NM_181523.3

p.D13V

c.38A>T

1 paper

NM_181523.3

p.D13_E17del0

c.37_51del15

2 papers

NM_181523.3

p.Y12F

c.35A>T

1 paper

NM_181523.3

p.Y14delFs

c.41_42delAT

2 papers

NM_181523.3

p.Y14H

c.40T>C

1 paper

NM_181523.3

p.Y14fs

c.40_41fs

1 paper

NM_181523.3

p.Y12_E19del0

c.36_56del21

3 papers

NM_181523.3

p.Y14F

c.41A>T

1 paper

NM_181523.3

p.Y14*

c.42T>A