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.I559S

c.1676T>G

Surrounding Variants

1 paper

NM_181523.3

p.I559N

c.1676T>A

2 papers

NM_181523.3

p.I559T

c.1676T>C

1 paper

NM_181523.3

p.I559fs

c.1675_1676fs

1 paper

NM_181523.3

p.D560del1

c.1678_1679delGAC

1 paper

NM_181504.4

p.D290_S295del6

c.868_884del18

2 papers

NM_181523.3

p.D560N

c.1678G>A

13 papers

NM_181523.3

p.D560H

c.1678G>C

28 papers

NM_181523.3

p.D560Y

c.1678G>T

1 paper

NM_181523.3

p.D560A

c.1679A>C

12 papers

NM_181523.3

p.D560G

c.1679A>G

1 paper

NM_181523.3

p.K561insFs

c.1683dupA

1 paper

NM_181523.3

p.K561_R562ins1

c.1683_1684insAAA