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.K239K

c.717A>G

Surrounding Variants

1 paper

NM_007121.7

p.K239R

c.716A>G

1 paper

NM_007121.7

p.R240C

c.718C>T

1 paper

NM_007121.7

p.N238T

c.713A>C

1 paper

NM_007121.7

p.N238S

c.713A>G

1 paper

NM_007121.7

p.N238I

c.713A>T

1 paper

NM_007121.7

p.F242S

c.725T>C

1 paper

NM_007121.7

p.C237insFs

c.710dupG

1 paper

NM_007121.7

p.K247E

c.739A>G

1 paper

NM_007121.7

p.A232V

c.695C>T

1 paper

NM_007121.7

p.K247N

c.741A>T

1 paper

NM_007121.7

p.Q229*

c.685C>T

1 paper

NM_007121.7

p.I227T

c.680T>C