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.Q579fs

c.1735_1736fs

Surrounding Variants

1 paper

NM_181523.3

p.Q579ins1

c.1736_1737insGGA

6 papers

NM_181523.3

p.Q579fs

c.1735_1736fs

2 papers

NM_181523.3

p.Q579*

c.1735C>T

1 paper

NM_181523.3

p.Q579_Y580delins

c.1735_1738delinsTCCCAGA

1 paper

NM_181523.3

p.D578_Q579delins

c.1734_1735delinsTTACATCA

3 papers

NM_181523.3

p.Q579insFs

c.1735dupC

1 paper

NM_181523.3

p.D578A

c.1733A>C

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.D578N

c.1732G>A

1 paper

NM_181523.3

p.D578H

c.1732G>C

4 papers

NM_181523.3

p.D578fs

c.1732_1733fs