The NR1H4 gene homepage

General information
Gene symbol NR1H4
Gene name nuclear receptor subfamily 1, group H, member 4
Chromosome 12
Chromosomal band q23.1
Imprinted Unknown
Genomic reference NG_029843.1
Transcript reference NM_001206977.1
Exon/intron information NM_001206977.1 exon/intron table
Associated with diseases PFIC, PFIC5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 4
Unique public DNA variants reported 4
Individuals with public variants 20
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated September 17, 2021
Version NR1H4:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001206977.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/NR1H4
HGNC 7967
Entrez Gene 9971
PubMed articles NR1H4
OMIM - Gene 603826
OMIM - Diseases PFIC5 (cholestasis, intrahepatic, familial, progressive, type 5 (PFIC-5))
HGMD NR1H4
GeneCards NR1H4
GeneTests NR1H4
Orphanet NR1H4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025280 12 transcript variant 6 NM_001206977.1 NP_001193906.1 4


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