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

5 papers

NM_003889.4

p.Q141K

c.421C>A

Surrounding Variants

15 papers

NM_003889.4

p.V140M

c.418G>A

NM_022002.3

p.V179M

c.535G>A

1 paper

NM_003889.4

p.G139E

c.416G>A

1 paper

NM_003889.4

p.G142G

c.426G>A

1 paper

NM_003889.4

p.L143fs

c.427_428fs

1 paper

NM_003889.4

p.G139R

c.415G>A

2 papers

NM_003889.4

p.G139R

c.415G>C

5 papers

NM_003889.4

p.T135A

c.403A>G

1 paper

NM_003889.4

p.G134G

c.402G>A

1 paper

NM_003889.4

p.G134V

c.401G>T

14 papers

NM_003889.4

p.R148Q

c.443G>A

1 paper

NM_003889.4

p.T133A

c.397A>G

1 paper

NM_003889.4

p.R132Q

c.395G>A