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.S102*

c.305C>A

Surrounding Variants

4 papers

NM_181523.3

p.S102L

c.305C>T

2 papers

NM_181523.3

p.S102S

c.306G>A

1 paper

NM_181523.3

p.K103_T104del1

c.308_310delAAA

1 paper

NM_181523.3

p.K103_T104del2

c.307_311del6

1 paper

NM_181523.3

p.S102_K103insFs

c.304_307dup4

1 paper

NM_181523.3

p.K103T

c.308A>C

1 paper

NM_181523.3

p.K103N

c.309A>C

2 papers

NM_181523.3

p.T104I

c.311C>T

1 paper

NM_181523.3

p.G100A

c.299G>C

1 paper

NM_181523.3

p.G100S

c.298G>A

1 paper

NM_181523.3

p.P99_K103del0

c.297_308del12

1 paper

NM_181523.3

p.P99A

c.295C>G