Varaico: Literature-Extracted Genetic Variants

Gene:NR1H2
Variant:p.M1T

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
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
2 papers
NM_007121.7
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_007121.7
p.M1K
c.2T>A
1 paper
NM_007121.7
p.M1R
c.2T>G
1 paper
NM_007121.7
p.M1insFs
c.2dupT
1 paper
NM_007121.7
p.M1L
c.1A>C
1 paper
NM_007121.7
p.M1V
c.1A>G
1 paper
NM_007121.7
p.M1L
c.1A>T
2 papers
NM_007121.7
p.M1I
c.3G>A
2 papers
NM_007121.7
p.M1I
c.3G>C
3 papers
NM_007121.7
p.M1I
c.3G>T
1 paper
NM_007121.7
p.S2T
c.4T>A
2 papers
NM_007121.7
p.S2F
c.5C>T
4 papers
NM_007121.7
p.P4H
c.11C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."