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.T164I

c.491C>T

Surrounding Variants

1 paper

NM_003889.4

p.T165A

c.493A>G

19 papers

NM_003889.4

p.D163G

c.488A>G

NM_022002.3

p.D202G

c.605A>G

1 paper

NM_003889.4

p.F162Y

c.485T>A

1 paper

NM_003889.4

p.F166C

c.497T>G

1 paper

NM_003889.4

p.S167T

c.499T>A

1 paper

NM_003889.4

p.S167Y

c.500C>A

2 papers

NM_003889.4

p.K160R

c.479A>G

1 paper

NM_003889.4

p.M159delFs

c.475delA

2 papers

NM_003889.4

p.K170R

c.509A>G

12 papers

NM_003889.4

p.Q158K

c.472C>A

1 paper

NM_003889.4

p.I151V

c.451A>G

14 papers

NM_003889.4

p.R148Q

c.443G>A