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.L370R

c.1109T>G

Surrounding Variants

8 papers

NM_181523.3

p.L370fs

c.1108_1109fs

2 papers

NM_181523.3

p.T371fs

c.1111_1112fs

1 paper

NM_181523.3

p.T371fs

c.1111_1112fs

6 papers

NM_181523.3

p.T369I

c.1106C>T

1 paper

NM_181523.3

p.T371I

c.1112C>T

1 paper

NM_181504.4

p.L102delFs

c.305_306delTA

1 paper

NM_181504.4

p.L102_R103delFs

c.306_307delAA

1 paper

NM_181523.3

p.Y368fs

c.1102_1103fs

1 paper

NM_181523.3

p.Y368_T371insFs

c.1104_1111dup8

1 paper

NM_181523.3

p.Y368delFs

c.1102delT

1 paper

NM_181523.3

p.D367N

c.1099G>A

1 paper

NM_181523.3

p.Y368del1

c.1102_1103delTAT