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.G376insFs

c.1127dupG

Surrounding Variants

1 paper

NM_181523.3

p.K374T

c.1121A>C

1 paper

NM_181523.3

p.G375fs

c.1123_1124fs

1 paper

NM_181523.3

p.G375_I381delFs

c.1123_1141del19

1 paper

NM_181523.3

p.G375E

c.1124G>A

1 paper

NM_181504.4

p.K104del1

c.310_312delAAA

66 papers

NM_181523.3

p.G376R

c.1126G>A

1 paper

NM_181523.3

p.R373Splc

c.1119-1G>A

65 papers

NM_181523.3

p.G376R

c.1126G>C

1 paper

NM_181523.3

p.G376fs

c.1126_1127fs

3 papers

NM_181523.3

p.G376E

c.1127G>A

1 paper

NM_181504.4

p.N107delFs

c.319_320delAA

1 paper

NM_181523.3

p.N377fs

c.1129_1130fs