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.I539fs

c.1615_1616fs

Surrounding Variants

1 paper

NM_181523.3

p.I539N

c.1616T>A

2 papers

NM_181523.3

p.I539_R544del6

c.1615_1631del18

1 paper

NM_181523.3

p.I538delFs

c.1614delT

1 paper

NM_181523.3

p.E537D

c.1611A>C

1 paper

NM_181523.3

p.E537D

c.1611A>T

11 papers

NM_181523.3

p.I539del1

c.1615_1616delATT

1 paper

NM_181523.3

p.D540E

c.1620C>A

1 paper

NM_181523.3

p.E537fs

c.1609_1610fs

1 paper

NM_181523.3

p.E537*

c.1609G>T

1 paper

NM_181523.3

p.E537_I538delFs

c.1611_1612delAA

1 paper

NM_181523.3

p.R542del1

c.1624_1626delAGA

1 paper

NM_181523.3

p.R542T

c.1625G>C