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

4 papers

NM_007121.7

p.L225_M226insCAG

c.673_677ins9

Surrounding Variants

2 papers

NM_007121.7

p.L225L

c.673C>T

1 paper

NM_007121.7

p.M226L

c.676A>C

1 paper

NM_007121.7

p.E224Q

c.670G>C

1 paper

NM_007121.7

p.E224insFs

c.670_671insT

1 paper

NM_007121.7

p.M226_I227delFs

c.678_681del4

3 papers

NM_007121.7

p.Q223_E224insAAC

c.667_671ins9

1 paper

NM_007121.7

p.I227T

c.680T>C

2 papers

NM_007121.7

p.A222V

c.665C>T

1 paper

NM_007121.7

p.Q229*

c.685C>T

1 paper

NM_007121.7

p.L219R

c.656T>G

1 paper

NM_007121.7

p.A232V

c.695C>T

1 paper

NM_007121.7

p.E215A

c.644A>C