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.L95_P96del1

c.284_286delTTC

Surrounding Variants

1 paper

NM_181523.3

p.P94S

c.280C>T

1 paper

NM_181523.3

p.P94_L95insFs

c.282_283insGG

1 paper

NM_181523.3

p.L95fs

c.283_284fs

5 papers

NM_181523.3

p.R93Q

c.278G>A

1 paper

NM_181523.3

p.R93L

c.278G>T

1 paper

NM_181523.3

p.R93G

c.277C>G

9 papers

NM_181523.3

p.R93W

c.277C>T

1 paper

NM_181523.3

p.P96_A98del0

c.286_294del9

1 paper

NM_181523.3

p.P96fs

c.286_287fs

1 paper

NM_181523.3

p.P96A

c.286C>G

1 paper

NM_181523.3

p.P96ins6

c.287_288ins18

1 paper

NM_181523.3

p.P92delFs

c.276delT