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.L356fs

c.1066_1067fs

Surrounding Variants

1 paper

NM_181523.3

p.L356fs

c.1066_1067fs

1 paper

NM_181523.3

p.F355L

c.1065T>A

1 paper

NM_181523.3

p.L356S

c.1067T>C

1 paper

NM_181523.3

p.F355L

c.1065T>G

1 paper

NM_181523.3

p.F355L

c.1063T>C

1 paper

NM_181523.3

p.F355V

c.1063T>G

1 paper

NM_181523.3

p.V357E

c.1070T>A

2 papers

NM_181523.3

p.T354I

c.1061C>T

2 papers

NM_181523.3

p.T354fs

c.1060_1061fs

2 papers

NM_181523.3

p.T354A

c.1060A>G

13 papers

NM_181523.3

p.R358*

c.1072C>T

3 papers

NM_181523.3

p.R358Q

c.1073G>A