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

1–12 of 242 variants

5 papers

NM_007121.7

p.K172_Q173ins1

c.516_517insCAG

4 papers

NM_007121.7

p.P4H

c.11C>A

4 papers

NM_007121.7

p.K75_G76ins1

c.225_226insCAG

4 papers

NM_007121.7

p.L225_M226insCAG

c.673_677ins9

3 papers

NM_007121.7

p.M1I

c.3G>T

3 papers

NM_007121.7

p.A23G

c.68C>G

3 papers

NM_007121.7

p.P24S

c.70C>T

3 papers

NM_007121.7

p.E36E

c.108G>A

3 papers

NM_007121.7

p.K75ins1

c.223_224insAAC

3 papers

NM_007121.7

p.H84Y

c.250C>T

3 papers

NM_007121.7

p.K108R

c.323A>G

3 papers

NM_007121.7

p.Q223_E224insAAC

c.667_671ins9