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

2 papers

NM_181523.3

p.E468K

c.1402G>A

Surrounding Variants

1 paper

NM_181523.3

p.E468*

c.1402G>T

1 paper

NM_181523.3

p.E468ins4

c.1403_1404ins12

1 paper

NM_181523.3

p.Y467*

c.1401T>A

1 paper

NM_181523.3

p.Y467*

c.1401T>G

1 paper

NM_181523.3

p.Y467F

c.1400A>T

1 paper

NM_181523.3

p.E469_Y470ins4

c.1405_1409ins12

1 paper

NM_181523.3

p.Y467del1

c.1399_1400delTAT

1 paper

NM_181523.3

p.R465_Y470delins

c.1395_1410delinsTGTC

2 papers

NM_181523.3

p.L466del1

c.1396_1397delTTA

2 papers

NM_181523.3

p.L466_Y470del0

c.1397_1408del12

1 paper

NM_181523.3

p.T471S

c.1411A>T

1 paper

NM_181523.3

p.R465_L466del1

c.1394_1396delGAT