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

3 papers

NM_007121.7

p.K75ins1

c.223_224insAAC

Surrounding Variants

4 papers

NM_007121.7

p.K75_G76ins1

c.225_226insCAG

1 paper

NM_007121.7

p.P77delFs

c.229delC

1 paper

NM_007121.7

p.G76G

c.228C>T

1 paper

NM_007121.7

p.K72N

c.216G>T

1 paper

NM_007121.7

p.R71C

c.211C>T

1 paper

NM_007121.7

p.P79L

c.236C>T

1 paper

NM_007121.7

p.E70K

c.208G>A

2 papers

NM_007121.7

p.E68K

c.202G>A

1 paper

NM_007121.7

p.E67A

c.200A>C

3 papers

NM_007121.7

p.H84Y

c.250C>T

1 paper

NM_007121.7

p.E85Q

c.253G>C

1 paper

NM_007121.7

p.D64V

c.191A>T