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.R76R

c.228G>A

Surrounding Variants

1 paper

NM_003889.4

p.R74W

c.220C>T

1 paper

NM_003889.4

p.R80insFs

c.238_239insG

1 paper

NM_003889.4

p.R71C

c.211C>T

2 papers

NM_003889.4

p.A83V

c.248C>T

1 paper

NM_003889.4

p.E85K

c.253G>A

1 paper

NM_003889.4

p.A68T

c.202G>A

1 paper

NM_022002.3

p.R127G

c.379C>G

3 papers

NM_003889.4

p.T90A

c.268A>G

2 papers

NM_003889.4

p.R91R

c.271C>A

1 paper

NM_003889.4

p.Q93*

c.277C>T

1 paper

NM_003889.4

p.C94C

c.282C>T

1 paper

NM_003889.4

p.R66Splc

c.198-29C>T