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.K430T

c.1289A>C

Surrounding Variants

1 paper

NM_181523.3

p.K430R

c.1289A>G

2 papers

NM_181523.3

p.S429Y

c.1286C>A

1 paper

NM_181523.3

p.Q432*

c.1294C>T

1 paper

NM_181523.3

p.P427S

c.1279C>T

1 paper

NM_181523.3

p.Q433_D434Splc

c.1299+1G>A

2 papers

NM_181523.3

p.Q433_D434Splc

c.1299+2T>A

2 papers

NM_181504.4

p.Q163_D164Splc

c.489+2T>C

NM_181523.3

p.Q433_D434Splc

c.1299+2T>C

1 paper

NM_181523.3

p.Y426H

c.1276T>C

1 paper

NM_181523.3

p.L425_K430Fs

c.1274_1289delinsCTGTTGGTFs

1 paper

NM_181523.3

p.L425I

c.1273C>A

1 paper

NM_181523.3

p.L425F

c.1273C>T

1 paper

NM_181523.3

p.L425fs

c.1273_1274fs