Varaico: Literature-Extracted Genetic Variants

NR1I2

391 papers

RefSeq Summary

This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a tr...

Pfam Domains

zf-C4aa 39–109UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 238–415UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 1 group I member 2

HGNC Alias Symbols

ONR1; PXR; BXR; SXR; PAR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003889.4

p.A123A

c.369C>T

Surrounding Variants

1 paper

NM_003889.4

p.L124V

c.370T>G

19 papers

NM_003889.4

p.R122Q

c.365G>A

NM_022002.3

p.R161Q

c.482G>A

1 paper

NM_003889.4

p.R122G

c.364C>G

1 paper

NM_003889.4

p.E120A

c.359A>C

7 papers

NM_003889.4

p.R127G

c.379C>G

1 paper

NM_003889.4

p.E120Q

c.358G>C

1 paper

NM_003889.4

p.K128*

c.382A>T

1 paper

NM_003889.4

p.K128R

c.383A>G

1 paper

NM_003889.4

p.E119K

c.355G>A

2 papers

NM_003889.4

p.S130G

c.388A>G

1 paper

NM_003889.4

p.S130N

c.389G>A

1 paper

NM_003889.4

p.E116_A117insFs

c.348_349insA