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.S652fs

c.1954_1955fs

Surrounding Variants

1 paper

NM_181523.3

p.S652N

c.1955G>A

1 paper

NM_181523.3

p.S652T

c.1955G>C

6 papers

NM_181523.3

p.S652insFs

c.1956dupT

1 paper

NM_181523.3

p.S651N

c.1952G>A

5 papers

NM_181523.3

p.K653*

c.1957A>T

1 paper

NM_181523.3

p.E650V

c.1949A>T

2 papers

NM_181523.3

p.Q654*

c.1960C>T

1 paper

NM_181523.3

p.E650K

c.1948G>A

1 paper

NM_181523.3

p.E650fs

c.1948_1949fs

1 paper

NM_181523.3

p.E650*

c.1948G>T

6 papers

NM_181523.3

p.R649Q

c.1946G>A

1 paper

NM_181523.3

p.R649L

c.1946G>T