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

4 papers

NM_181523.3

p.L380fs

c.1138_1139fs

Surrounding Variants

1 paper

NM_181523.3

p.L380V

c.1138T>G

7 papers

NM_181523.3

p.K379N

c.1137A>C

7 papers

NM_181523.3

p.K379N

c.1137A>T

1 paper

NM_181523.3

p.L380*

c.1139T>A

1 paper

NM_181523.3

p.L380*

c.1139T>G

1 paper

NM_181523.3

p.I381_I383ins1

c.1143_1148dup6

2 papers

NM_181523.3

p.I381_K382del1

c.1142_1144delTCA

13 papers

NM_181523.3

p.L380del1

c.1138_1139delTTA

1 paper

NM_181523.3

p.I381fs

c.1141_1142fs

14 papers

NM_181523.3

p.K379E

c.1135A>G

1 paper

NM_181523.3

p.K379_L380delFs

c.1136_1139del4

1 paper

NM_181523.3

p.K379_L380del2

c.1135_1139del6