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.K389N

c.1167A>C

Surrounding Variants

1 paper

NM_181523.3

p.K389N

c.1167A>T

1 paper

NM_181523.3

p.Y390fs

c.1168_1169fs

1 paper

NM_181523.3

p.K389fs

c.1165_1166fs

1 paper

NM_181523.3

p.K389fs

c.1165_1166fs

4 papers

NM_181523.3

p.Y390Y

c.1170T>C

1 paper

NM_181523.3

p.G388delFs

c.1164delG

1 paper

NM_181523.3

p.D387N

c.1159G>A

1 paper

NM_181523.3

p.F392_T397delFs

c.1176_1189del14

3 papers

NM_181523.3

p.F392F

c.1176C>T

4 papers

NM_001242466.2

p.R23Q

c.68G>A

NM_181523.3

p.R386Q

c.1157G>A

1 paper

NM_181523.3

p.S393P

c.1177T>C

5 papers

NM_181523.3

p.R386G

c.1156C>G