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.P568S

c.1702C>T

Surrounding Variants

3 papers

NM_181523.3

p.P568T

c.1702C>A

1 paper

NM_181523.3

p.P568fs

c.1702_1703fs

1 paper

NM_181523.3

p.P568fs

c.1702_1703fs

1 paper

NM_181523.3

p.P568_T576del0

c.1704_1727del24

1 paper

NM_181523.3

p.K567_P568ins2

c.1701_1702ins6

1 paper

NM_181523.3

p.P568L

c.1703C>T

1 paper

NM_181523.3

p.K567R

c.1700A>G

1 paper

NM_181523.3

p.K567I

c.1700A>T

1 paper

NM_181523.3

p.K567_T576del0

c.1701_1727del27

1 paper

NM_181523.3

p.D569_T576del0

c.1705_1728del24

1 paper

NM_181523.3

p.K567ins5

c.1699_1700ins15

56 papers

NM_181523.3

p.K567E

c.1699A>G