Varaico: Literature-Extracted Genetic Variants

NR1H2

505 papers

RefSeq Summary

The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs invol...

Pfam Domains

zf-C4aa 85–156UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 256–444UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 1 group H member 2

HGNC Previous Symbol

UNR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007121.7

p.G129R

c.385G>A

Surrounding Variants

2 papers

NM_007121.7

p.G129R

c.385G>C

1 paper

NM_007121.7

p.R126L

c.377G>T

1 paper

NM_007121.7

p.R126W

c.376C>T

1 paper

NM_007121.7

p.A124A

c.372C>T

1 paper

NM_007121.7

p.A135_F136del2

c.403_407del6

1 paper

NM_007121.7

p.Y123C

c.368A>G

1 paper

NM_007121.7

p.A135V

c.404C>T

1 paper

NM_007121.7

p.R122C

c.364C>T

1 paper

NM_007121.7

p.R121_R122ins1

c.363_364insACA

1 paper

NM_007121.7

p.R121delFs

c.361delA

1 paper

NM_007121.7

p.M137I

c.411G>A

1 paper

NM_007121.7

p.R139H

c.416G>A