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

1 paper

NM_007121.7

p.F111_R112del2

c.331_335del6

Surrounding Variants

1 paper

NM_007121.7

p.R112Q

c.335G>A

3 papers

NM_007121.7

p.K108R

c.323A>G

1 paper

NM_007121.7

p.C107_K108insFs

c.321_322insAA

1 paper

NM_007121.7

p.R117G

c.349C>G

1 paper

NM_007121.7

p.V101M

c.301G>A

1 paper

NM_007121.7

p.N100K

c.300C>G

1 paper

NM_007121.7

p.R121delFs

c.361delA

1 paper

NM_007121.7

p.Y99Y

c.297C>T

1 paper

NM_007121.7

p.R121_R122ins1

c.363_364insACA

1 paper

NM_007121.7

p.R122C

c.364C>T

1 paper

NM_007121.7

p.H98R

c.293A>G

1 paper

NM_007121.7

p.Y123C

c.368A>G