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

3 papers

NM_007121.7

p.E36E

c.108G>A

Surrounding Variants

1 paper

NM_007121.7

p.P37T

c.109C>A

1 paper

NM_007121.7

p.P37_W38delFs

c.111_112delGT

2 papers

NM_007121.7

p.P35P

c.105G>A

2 papers

NM_007121.7

p.P35S

c.103C>T

1 paper

NM_007121.7

p.W38*

c.114G>A

1 paper

NM_007121.7

p.G34G

c.102T>A

1 paper

NM_007121.7

p.G34V

c.101G>T

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.G34delFs

c.101delG

1 paper

NM_007121.7

p.G40R

c.118G>A

1 paper

NM_007121.7

p.G40R

c.118G>C