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.V437G

c.1310T>G

Surrounding Variants

1 paper

NM_181523.3

p.K438*

c.1312A>T

8 papers

NM_181523.3

p.E439del1

c.1315_1316delGAA

1 paper

NM_181523.3

p.V437_V445del0

c.1311_1334del24

1 paper

NM_181523.3

p.E439K

c.1315G>A

3 papers

NM_181523.3

p.E439*

c.1315G>T

1 paper

NM_181523.3

p.E439fs

c.1315_1316fs

1 paper

NM_181523.3

p.Q435_L449del0

c.1305_1346del42

2 papers

NM_181523.3

p.D440del1

c.1318_1319delGAT

1 paper

NM_181523.3

p.Q435*

c.1303C>T

1 paper

NM_181523.3

p.N441_N453del0

c.1323_1358del36

1 paper

NM_181523.3

p.D434E

c.1302T>A

1 paper

NM_181523.3

p.D434E

c.1302T>G