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.P91_P96del0

c.273_287del15

Surrounding Variants

1 paper

NM_181523.3

p.R90_P91insFs

c.270_271insC

1 paper

NM_181523.3

p.P91insFs

c.271_272insCA

1 paper

NM_181523.3

p.P91delFs

c.272_273delCA

1 paper

NM_181523.3

p.P91fs

c.271_272fs

1 paper

NM_181523.3

p.R90ins2

c.269_270ins6

1 paper

NM_181523.3

p.R90_P91insN

c.268_272ins3

1 paper

NM_181523.3

p.P91L

c.272C>T

1 paper

NM_181523.3

p.P91_R93del0

c.273_278del6

1 paper

NM_181523.3

p.P89_P92delins

c.266_276delinsTTCAAGAAAAAAGTTTCTTGAAA

1 paper

NM_181523.3

p.P92fs

c.274_275fs

1 paper

NM_181523.3

p.P89ins1

c.265_266insATA

1 paper

NM_181523.3

p.P89ins1

c.265_266insGGG