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.G5G

c.15G>A

Surrounding Variants

1 paper

NM_181523.3

p.Y6delFs

c.16_17delTA

1 paper

NM_181523.3

p.Y6del1

c.16_18delTAC

2 papers

NM_181523.3

p.G5V

c.14G>T

1 paper

NM_181523.3

p.Q7_Y8del2

c.19_23del6

1 paper

NM_181523.3

p.Y6C

c.17A>G

3 papers

NM_181523.3

p.Y6F

c.17A>T

1 paper

NM_181523.3

p.G5R

c.13G>C

2 papers

NM_181523.3

p.Y6*

c.18C>A

2 papers

NM_181523.3

p.Y6*

c.18C>G

5 papers

NM_181523.3

p.E4E

c.12G>A

8 papers

NM_181523.3

p.E4D

c.12G>C

1 paper

NM_181523.3

p.Q7*

c.19C>T