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

8 papers

NM_181523.3

p.Q579_Y580del0

c.1735_1740del6

Surrounding Variants

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

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.D578del1

c.1732_1733delGAC

2 papers

NM_181523.3

p.D578_Y580del3

c.1732_1739del9

NM_181504.4

p.D308_Y310del3

c.922_929del9

1 paper

NM_181523.3

p.D578_Q579delins

c.1734_1735delinsTTACATCA

4 papers

NM_181523.3

p.R577K

c.1730G>A

1 paper

NM_181523.3

p.R577T

c.1730G>C

3 papers

NM_181523.3

p.R577fs

c.1729_1730fs

1 paper

NM_181523.3

p.R577fs

c.1729_1730fs