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.Y580*

c.1740C>G

Surrounding Variants

2 papers

NM_181523.3

p.Y580*

c.1740C>A

3 papers

NM_181523.3

p.Y580C

c.1739A>G

1 paper

NM_181523.3

p.L581fs

c.1741_1742fs

1 paper

NM_181523.3

p.L581*

c.1742T>A

4 papers

NM_181523.3

p.Y580D

c.1738T>G

8 papers

NM_181523.3

p.Y580fs

c.1738_1739fs

2 papers

NM_181523.3

p.Y580del1

c.1738_1739delTAC

2 papers

NM_181523.3

p.Y580_L581del0

c.1738_1743del6

1 paper

NM_181523.3

p.L581F

c.1743G>C

1 paper

NM_181523.3

p.L581F

c.1743G>T

3 papers

NM_181523.3

p.M582L

c.1744A>C

3 papers

NM_181523.3

p.M582L

c.1744A>T