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.T473P

c.1417A>C

Surrounding Variants

1 paper

NM_181523.3

p.R472_Q475delins

c.1415_1425delinsAT

1 paper

NM_181523.3

p.R472C

c.1414C>T

1 paper

NM_181523.3

p.T471S

c.1412C>G

1 paper

NM_181523.3

p.T471S

c.1411A>T

3 papers

NM_181523.3

p.Q475P

c.1424A>C

34 papers

NM_181523.3

p.Q475_E476Splc

c.1425+1G>A

NM_181524.2

p.Q175_E176Splc

c.525+1G>A

15 papers

NM_181523.3

p.Q475_E476Splc

c.1425+1G>C

23 papers

NM_181523.3

p.Q475_E476Splc

c.1425+1G>T

8 papers

NM_181523.3

p.Q475_E476Splc

c.1425+2T>A

5 papers

NM_181523.3

p.Q475_E476Splc

c.1425+2T>G

1 paper

NM_181523.3

p.E469_Y470ins4

c.1405_1409ins12

1 paper

NM_181523.3

p.E468ins4

c.1403_1404ins12