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.L56fs

c.166_167fs

Surrounding Variants

1 paper

NM_181523.3

p.L56V

c.166T>G

1 paper

NM_181523.3

p.L56_N57ins4

c.166_170ins12

1 paper

NM_181523.3

p.L56delFs

c.167delT

2 papers

NM_181523.3

p.W55R

c.163T>A

2 papers

NM_181523.3

p.W55R

c.163T>C

2 papers

NM_181523.3

p.G54S

c.160G>A

2 papers

NM_181523.3

p.Y59F

c.176A>T

1 paper

NM_181523.3

p.E52insFs

c.155_156ins5

2 papers

NM_181523.3

p.N60_E61del1

c.180_182delTGA

2 papers

NM_181523.3

p.E52K

c.154G>A

3 papers

NM_181523.3

p.E52*

c.154G>T

1 paper

NM_181523.3

p.E51D

c.153A>T