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.S27A

c.79T>G

Surrounding Variants

1 paper

NM_007121.7

p.S27L

c.80C>T

1 paper

NM_007121.7

p.P28insFs

c.82dupC

1 paper

NM_007121.7

p.S26F

c.77C>T

3 papers

NM_007121.7

p.P24S

c.70C>T

3 papers

NM_007121.7

p.A23G

c.68C>G

2 papers

NM_007121.7

p.A23T

c.67G>A

2 papers

NM_007121.7

p.K31K

c.93G>A

1 paper

NM_007121.7

p.G34delFs

c.101delG

1 paper

NM_007121.7

p.G34S

c.100G>A

1 paper

NM_007121.7

p.G34R

c.100G>C

1 paper

NM_007121.7

p.G34V

c.101G>T

1 paper

NM_007121.7

p.P19H

c.56C>A