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

1 paper

NM_003889.4

p.E321A

c.962A>C

Surrounding Variants

1 paper

NM_003889.4

p.E321*

c.961G>T

1 paper

NM_003889.4

p.L320M

c.958C>A

1 paper

NM_003889.4

p.L318H

c.953T>A

1 paper

NM_003889.4

p.Y328H

c.982T>C

1 paper

NM_003889.4

p.L335M

c.1003C>A

10 papers

NM_003889.4

p.G313Splc

c.938-17C>T

1 paper

NM_003889.4

p.L335L

c.1003C>T

1 paper

NM_003889.4

p.E337G

c.1010A>G

1 paper

NM_003889.4

p.V341E

c.1022T>A

1 paper

NM_003889.4

p.V341A

c.1022T>C

1 paper

NM_003889.4

p.I346T

c.1037T>C

5 papers

NM_003889.4

p.S347A

c.1039T>G