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.S53C

c.157A>T

Surrounding Variants

1 paper

NM_007121.7

p.A52A

c.156C>A

1 paper

NM_007121.7

p.S53R

c.159C>A

1 paper

NM_007121.7

p.T49N

c.146C>A

1 paper

NM_007121.7

p.T49S

c.146C>G

1 paper

NM_007121.7

p.T49I

c.146C>T

1 paper

NM_007121.7

p.T49P

c.145A>C

1 paper

NM_007121.7

p.T49A

c.145A>G

1 paper

NM_007121.7

p.T49S

c.145A>T

1 paper

NM_007121.7

p.G48D

c.143G>A

1 paper

NM_007121.7

p.D59fs

c.175_176fs

1 paper

NM_007121.7

p.V46I

c.136G>A

1 paper

NM_007121.7

p.D45_V46delFs

c.135_136delTG