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.K447_Y452del0

c.1341_1355del15

Surrounding Variants

1 paper

NM_181523.3

p.K447E

c.1339A>G

1 paper

NM_181523.3

p.K447fs

c.1339_1340fs

3 papers

NM_181523.3

p.K448insFs

c.1344dupA

1 paper

NM_181523.3

p.G446E

c.1337G>A

2 papers

NM_181523.3

p.K448fs

c.1342_1343fs

1 paper

NM_181523.3

p.L449_Y452del0

c.1346_1354del9

1 paper

NM_181523.3

p.G446R

c.1336G>A

1 paper

NM_181523.3

p.G446R

c.1336G>C

1 paper

NM_181523.3

p.G446fs

c.1336_1337fs

1 paper

NM_181523.3

p.G446_K448delFs

c.1337_1344del8

3 papers

NM_181523.3

p.L449del1

c.1345_1346delTTA

1 paper

NM_181523.3

p.L449_H450del2

c.1345_1349del6