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.L9L

c.27G>T

Surrounding Variants

1 paper

NM_007121.7

p.L9L

c.27G>C

1 paper

NM_007121.7

p.L9Q

c.26T>A

1 paper

NM_007121.7

p.L9P

c.26T>C

1 paper

NM_007121.7

p.L9R

c.26T>G

2 papers

NM_007121.7

p.D10A

c.29A>C

1 paper

NM_007121.7

p.L9M

c.25C>A

1 paper

NM_007121.7

p.L9V

c.25C>G

1 paper

NM_007121.7

p.L9fs

c.25_26fs

1 paper

NM_007121.7

p.D10E

c.30T>A

1 paper

NM_007121.7

p.T11N

c.32C>A

1 paper

NM_007121.7

p.P12A

c.34C>G

1 paper

NM_007121.7

p.P12H

c.35C>A