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

2 papers

NM_003889.4

p.G60R

c.178G>C

Surrounding Variants

2 papers

NM_003889.4

p.G60R

c.178G>A

4 papers

NM_003889.4

p.T57A

c.169A>G

1 paper

NM_003889.4

p.G63R

c.187G>C

2 papers

NM_003889.4

p.M56K

c.167T>A

1 paper

NM_003889.4

p.R66K

c.197G>A

1 paper

NM_003889.4

p.H52Q

c.156C>G

1 paper

NM_003889.4

p.T49S

c.146C>G

1 paper

NM_003889.4

p.T49S

c.145A>T

1 paper

NM_003889.4

p.K47*

c.139A>T

1 paper

NM_003889.4

p.R42H

c.125G>A

1 paper

NM_003889.4

p.I40V

c.118A>G

1 paper

NM_003889.4

p.Q39L

c.116A>T