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

6 papers

NM_001256647.3

p.K75_Q76ins1

c.225_226insCAG

NM_007121.7

p.K172_Q173ins1

c.516_517insCAG

Surrounding Variants

2 papers

NM_007121.7

p.K172ins1

c.514_515insAAC

1 paper

NM_007121.7

p.Q173Q

c.519G>A

2 papers

NM_007121.7

p.K172ins1

c.515_516insCAA

1 paper

NM_007121.7

p.R171_Q173del0

c.513_518del6

2 papers

NM_007121.7

p.R171W

c.511C>T

1 paper

NM_007121.7

p.I165T

c.494T>C

1 paper

NM_007121.7

p.Q164*

c.490C>T

1 paper

NM_007121.7

p.S183S

c.549A>G

1 paper

NM_007121.7

p.L160F

c.478C>T

1 paper

NM_007121.7

p.V159A

c.476T>C

1 paper

NM_007121.7

p.C158Y

c.473G>A

1 paper

NM_007121.7

p.G189fs

c.565_566fs