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.R562H

c.1685G>A

Surrounding Variants

1 paper

NM_181523.3

p.R562_M563ins0

c.1686_1688dupTAT

1 paper

NM_181523.3

p.R562S

c.1684C>A

1 paper

NM_181523.3

p.R562fs

c.1684_1685fs

1 paper

NM_181523.3

p.R562C

c.1684C>T

1 paper

NM_181523.3

p.M563_S565del3

c.1687_1694del9

1 paper

NM_181523.3

p.R562del1

c.1684_1685delCGT

1 paper

NM_181523.3

p.R562_S565del4

c.1684_1694del12

1 paper

NM_181523.3

p.M563fs

c.1687_1688fs

1 paper

NM_181523.3

p.M563_L570del0

c.1689_1709del21

1 paper

NM_181523.3

p.M563T

c.1688T>C

1 paper

NM_181523.3

p.N564H

c.1690A>C

79 papers

NM_181523.3

p.N564D

c.1690A>G

NM_001242466.2

p.N201D

c.601A>G