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.E85Q

c.253G>C

Surrounding Variants

3 papers

NM_007121.7

p.H84Y

c.250C>T

1 paper

NM_007121.7

p.C87S

c.259T>A

1 paper

NM_007121.7

p.C87S

c.260G>C

1 paper

NM_007121.7

p.R88C

c.262C>T

2 papers

NM_007121.7

p.R88H

c.263G>A

1 paper

NM_007121.7

p.P79L

c.236C>T

1 paper

NM_007121.7

p.D92insFs

c.274_275ins5

1 paper

NM_007121.7

p.G76G

c.228C>T

1 paper

NM_007121.7

p.P77delFs

c.229delC

3 papers

NM_007121.7

p.K75ins1

c.223_224insAAC

4 papers

NM_007121.7

p.K75_G76ins1

c.225_226insCAG

2 papers

NM_007121.7

p.S95S

c.285C>T