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.T316fs

c.946_947fs

Surrounding Variants

3 papers

NM_181523.3

p.T315I

c.944C>T

1 paper

NM_181523.3

p.T315P

c.943A>C

1 paper

NM_181523.3

p.T315A

c.943A>G

2 papers

NM_181523.3

p.V317I

c.949G>A

1 paper

NM_181523.3

p.T315_N320delFs

c.943_958del16

1 paper

NM_181523.3

p.P314H

c.941C>A

1 paper

NM_181523.3

p.P314L

c.941C>T

1 paper

NM_181523.3

p.A318delFs

c.953delC

1 paper

NM_181523.3

p.N319D

c.955A>G

1 paper

NM_181523.3

p.P312S

c.934C>T

1 paper

NM_181523.3

p.N320S

c.959A>G

1 paper

NM_181523.3

p.P311L

c.932C>T