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.N378fs

c.1132_1133fs

Surrounding Variants

2 papers

NM_181523.3

p.N377K

c.1131T>A

2 papers

NM_181523.3

p.N377K

c.1131T>G

1 paper

NM_181523.3

p.K379_L380del2

c.1135_1139del6

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.N377fs

c.1129_1130fs

13 papers

NM_181523.3

p.L380del1

c.1138_1139delTTA

7 papers

NM_181523.3

p.K379N

c.1137A>C

7 papers

NM_181523.3

p.K379N

c.1137A>T

3 papers

NM_181523.3

p.G376E

c.1127G>A

1 paper

NM_181504.4

p.N107delFs

c.319_320delAA

66 papers

NM_181523.3

p.G376R

c.1126G>A