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.K26*

c.76A>T

Surrounding Variants

1 paper

NM_003889.4

p.G25_K26insFs

c.75_76insA

19 papers

NM_003889.4

p.P27S

c.79C>T

NM_022002.3

p.P66S

c.196C>T

1 paper

NM_003889.4

p.P24S

c.70C>T

1 paper

NM_003889.4

p.S28I

c.83G>T

1 paper

NM_003889.4

p.N30S

c.89A>G

1 paper

NM_003889.4

p.E21V

c.62A>T

1 paper

NM_003889.4

p.A31A

c.93A>G

1 paper

NM_003889.4

p.T20A

c.58A>G

1 paper

NM_003889.4

p.D19N

c.55G>A

14 papers

NM_003889.4

p.E18K

c.52G>A

NM_022002.3

p.E57K

c.169G>A

1 paper

NM_003889.4

p.C17S

c.50G>C

1 paper

NM_003889.4

p.C17S

c.49T>A