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

34 papers

NM_003889.4

p.G36R

c.106G>A

NM_022002.3

p.G75R

c.223G>A

Surrounding Variants

32 papers

NM_003889.4

p.G36R

c.106G>C

NM_022002.3

p.G75R

c.223G>C

1 paper

NM_003889.4

p.P38L

c.113C>T

1 paper

NM_003889.4

p.Q39L

c.116A>T

1 paper

NM_003889.4

p.I40V

c.118A>G

1 paper

NM_003889.4

p.A31A

c.93A>G

1 paper

NM_003889.4

p.N30S

c.89A>G

1 paper

NM_003889.4

p.R42H

c.125G>A

1 paper

NM_003889.4

p.S28I

c.83G>T

19 papers

NM_003889.4

p.P27S

c.79C>T

NM_022002.3

p.P66S

c.196C>T

2 papers

NM_003889.4

p.K26*

c.76A>T

1 paper

NM_003889.4

p.G25_K26insFs

c.75_76insA

1 paper

NM_003889.4

p.K47*

c.139A>T