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

1–12 of 280 variants

33 papers

NM_003889.4

p.G36R

c.106G>A

31 papers

NM_003889.4

p.G36R

c.106G>C

18 papers

NM_003889.4

p.P27S

c.79C>T

18 papers

NM_003889.4

p.R122Q

c.365G>A

18 papers

NM_003889.4

p.D163G

c.488A>G

14 papers

NM_003889.4

p.V140M

c.418G>A

14 papers

NM_003889.4

p.R148Q

c.443G>A

14 papers

NM_003889.4

p.A370T

c.1108G>A

13 papers

NM_003889.4

p.E18K

c.52G>A

12 papers

NM_003889.4

p.Q158K

c.472C>A

11 papers

NM_003889.4

p.R98C

c.292C>T

10 papers

NM_003889.4

p.G313Splc

c.938-17C>T