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

2 papers

NM_181523.3

p.L570_R574del0

c.1710_1721del12

Surrounding Variants

9 papers

NM_181523.3

p.L570P

c.1709T>C

1 paper

NM_181523.3

p.L570I

c.1708C>A

2 papers

NM_181523.3

p.L570fs

c.1708_1709fs

2 papers

NM_181523.3

p.L570insFs

c.1710dupT

2 papers

NM_181523.3

p.L570F

c.1708C>T

1 paper

NM_181523.3

p.I571_Q572ins0

c.1711_1716dup6

1 paper

NM_181523.3

p.I571_R574del0

c.1712_1720del9

2 papers

NM_181523.3

p.I571fs

c.1711_1712fs

3 papers

NM_181523.3

p.I571fs

c.1711_1712fs

1 paper

NM_181523.3

p.L570insFs

c.1708dupC

1 paper

NM_181523.3

p.D569A

c.1706A>C

1 paper

NM_181523.3

p.D569G

c.1706A>G