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.H407P

c.1220A>C

Surrounding Variants

1 paper

NM_181523.3

p.H407R

c.1220A>G

2 papers

NM_181523.3

p.N406K

c.1218C>A

2 papers

NM_181523.3

p.N406K

c.1218C>G

1 paper

NM_181523.3

p.Y408D

c.1222T>G

1 paper

NM_181523.3

p.Y408C

c.1223A>G

1 paper

NM_181523.3

p.I405I

c.1215A>C

1 paper

NM_181523.3

p.R409W

c.1225C>T

9 papers

NM_181523.3

p.R409Q

c.1226G>A

1 paper

NM_181523.3

p.R409L

c.1226G>T

1 paper

NM_181523.3

p.L404I

c.1210T>A

4 papers

NM_181523.3

p.I405del1

c.1213_1214delATA

1 paper

NM_181523.3

p.E403E

c.1209A>G