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.I77N

c.230T>A

Surrounding Variants

2 papers

NM_181523.3

p.I77T

c.230T>C

1 paper

NM_181523.3

p.G78R

c.232G>A

1 paper

NM_181523.3

p.G78R

c.232G>C

1 paper

NM_181523.3

p.G78delFs

c.233_234delGA

1 paper

NM_181523.3

p.Y76*

c.228T>A

1 paper

NM_181523.3

p.Y76*

c.228T>G

2 papers

NM_181523.3

p.Y76F

c.227A>T

1 paper

NM_181523.3

p.G78E

c.233G>A

1 paper

NM_181523.3

p.Y76insFs

c.227dupA

1 paper

NM_181523.3

p.Y76_R79delFs

c.228_235del8

1 paper

NM_181523.3

p.E75Q

c.223G>C

1 paper

NM_181523.3

p.R79S

c.237G>C