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

5 papers

NM_181523.3

p.L26L

c.78G>A

Surrounding Variants

2 papers

NM_181523.3

p.L26F

c.78G>C

2 papers

NM_181523.3

p.L26F

c.78G>T

1 paper

NM_181523.3

p.G27C

c.79G>T

1 paper

NM_181523.3

p.D28V

c.83A>T

2 papers

NM_181523.3

p.I29_L30del1

c.87_89delATT

1 paper

NM_181523.3

p.L24*

c.71T>A

1 paper

NM_181523.3

p.I29K

c.86T>A

1 paper

NM_181523.3

p.L30_N33delFs

c.88_98del11

1 paper

NM_181523.3

p.L30fs

c.88_89fs

1 paper

NM_181523.3

p.D23N

c.67G>A

1 paper

NM_181523.3

p.D23Y

c.67G>T

2 papers

NM_181523.3

p.L30F

c.90G>C