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.F14Y

c.41T>A

Surrounding Variants

4 papers

NM_003889.4

p.A12T

c.34G>A

1 paper

NM_003889.4

p.C17S

c.49T>A

1 paper

NM_003889.4

p.C17R

c.49T>C

1 paper

NM_003889.4

p.C17S

c.50G>C

14 papers

NM_003889.4

p.E18K

c.52G>A

NM_022002.3

p.E57K

c.169G>A

1 paper

NM_003889.4

p.D19N

c.55G>A

1 paper

NM_003889.4

p.T20A

c.58A>G

3 papers

NM_003889.4

p.S8S

c.24C>T

1 paper

NM_003889.4

p.S8N

c.23G>A

1 paper

NM_003889.4

p.S8T

c.23G>C

1 paper

NM_003889.4

p.E21V

c.62A>T

1 paper

NM_003889.4

p.K6insFs

c.17dupA