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.N33_G35delFs

c.99_103del5

Surrounding Variants

1 paper

NM_181523.3

p.K34I

c.101A>T

1 paper

NM_181523.3

p.G35delFs

c.103_104delGG

1 paper

NM_181523.3

p.G35R

c.103G>A

1 paper

NM_181523.3

p.G35fs

c.103_104fs

1 paper

NM_181523.3

p.G35W

c.103G>T

2 papers

NM_181523.3

p.G35A

c.104G>C

1 paper

NM_181523.3

p.G35V

c.104G>T

1 paper

NM_181523.3

p.G35delins

c.104_105delinsAC

2 papers

NM_181523.3

p.L30F

c.90G>C

2 papers

NM_181523.3

p.L30F

c.90G>T

2 papers

NM_181523.3

p.S36P

c.106T>C

1 paper

NM_181523.3

p.L37delFs

c.109_110delTT