NR1H4

nuclear receptor subfamily 1 group H member 4

Summary

This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

Known Variants117 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3863377	12:100,866,640	G/A	upstream gene variant	—
rs557177457	12:100,873,758	C/A	—	—
rs116552003	12:100,883,498	G/A	intron variant	—
rs12231754	12:100,885,840	G/A	intron variant	—
rs7132969	12:100,886,843	G/A	—	benign
rs12296542	12:100,886,846	C/T	—	benign
rs56163822	12:100,887,101	G/T	5 prime UTR variant	benign
rs138943609	12:100,887,102	A/G	—	uncertain significance
rs140648896	12:100,887,119	T/C	—	conflicting classifications of pathogenicity
rs759591746	12:100,887,148	C/T	—	uncertain significance
rs1313639936	12:100,887,180	G/T	—	pathogenic
rs7304328	12:100,887,301	T/C	—	benign
rs75521895	12:100,890,227	C/T	intron variant	—
rs79073069	12:100,890,318	G/A	intron variant	—
rs919213	12:100,893,636	C/T	upstream gene variant	—
rs373472692	12:100,897,161	T/A	—	conflicting classifications of pathogenicity
rs17030240	12:100,897,216	C/T	—	benign
rs201042707	12:100,897,227	C/T	—	uncertain significance
rs1282014472	12:100,897,228	G/A	—	likely benign
rs17030242	12:100,897,231	G/A	—	benign
rs760186422	12:100,897,283	C/G	—	likely benign
rs7973216	12:100,897,409	A/G	—	benign
rs572515785	12:100,899,401	C/G	—	likely benign
rs760090636	12:100,904,544	A/G	—	likely benign
rs115828166	12:100,904,558	G/A	—	benign
rs753528227	12:100,904,567	G/T	—	likely pathogenic
rs764996783	12:100,904,583	C/T	—	uncertain significance
rs971190750	12:100,904,593	G/A	—	likely benign
rs148156024	12:100,904,617	G/T	—	uncertain significance
rs1395828484	12:100,904,623	C/T	—	uncertain significance
rs142009137	12:100,904,656	G/A	—	likely benign
rs1048755245	12:100,904,664	C/T	—	uncertain significance
rs150295715	12:100,904,744	C/T	—	uncertain significance
rs200146597	12:100,904,778	C/T	—	uncertain significance
rs775779402	12:100,904,792	A/T	—	uncertain significance
rs372358310	12:100,904,821	C/T	—	uncertain significance
rs2136158932	12:100,904,850	A/G	—	uncertain significance
rs780437636	12:100,904,856	G/A	—	uncertain significance
rs2500554549	12:100,904,876	G/A	—	uncertain significance
rs781560252	12:100,904,902	G/A	—	likely benign
rs1566445307	12:100,904,904	C/T	—	uncertain significance
rs137946171	12:100,904,914	G/A	—	conflicting classifications of pathogenicity
rs772766411	12:100,904,926	G/A	—	uncertain significance
rs12317930	12:100,905,216	T/G	—	benign
rs748640636	12:100,926,229	C/T	—	likely benign
rs1233635818	12:100,926,253	A/G	—	uncertain significance
rs143504528	12:100,926,264	C/T	—	likely benign
rs1165489383	12:100,926,269	T/C	—	uncertain significance
rs760660894	12:100,926,285	C/T	—	likely benign
rs1954718715	12:100,926,301	A/G	—	uncertain significance
rs61755050	12:100,926,308	C/T	—	likely benign
rs113090017	12:100,926,316	C/T	stop gained	pathogenic
rs1555335324	12:100,926,337	C/T	—	pathogenic
rs767846303	12:100,926,355	G/T	—	pathogenic
rs753099331	12:100,926,363	A/C	—	likely benign
rs1566461978	12:100,926,378	T/C	—	uncertain significance
rs2303624	12:100,926,574	G/A	—	benign
rs75924508	12:100,927,081	T/C	intron variant	—
rs1435791188	12:100,928,691	A/G	—	uncertain significance
rs778260507	12:100,928,723	G/A	—	likely benign
rs189042762	12:100,928,724	C/T	—	uncertain significance
rs180957965	12:100,928,727	G/T	—	uncertain significance
rs768563784	12:100,928,738	C/A	—	likely benign
rs748013412	12:100,928,761	G/A	—	uncertain significance
rs764421287	12:100,928,794	C/T	—	uncertain significance
rs183902004	12:100,928,807	A/G	—	likely benign
rs17030285	12:100,930,213	C/G	—	benign
rs79934001	12:100,930,264	C/T	—	benign
rs1566464880	12:100,930,288	A/G	—	likely pathogenic
rs776814580	12:100,930,297	C/T	—	uncertain significance
rs1322754256	12:100,930,307	C/T	—	conflicting classifications of pathogenicity
rs140420379	12:100,930,321	C/G	—	uncertain significance
rs751154221	12:100,930,322	T/G	—	likely benign
rs147030757	12:100,930,352	C/T	—	conflicting classifications of pathogenicity
rs1555335782	12:100,930,389	G/A	—	pathogenic
rs191889376	12:100,930,396	T/A	—	benign
rs7138843	12:100,930,695	T/A	intron variant	benign
rs752381752	12:100,930,706	G/T	—	likely benign
rs11110413	12:100,930,710	T/A	—	benign
rs748378207	12:100,930,769	C/T	—	uncertain significance
rs2500704239	12:100,930,777	G/T	—	uncertain significance
rs1251445242	12:100,930,781	C/T	—	likely pathogenic
rs886042563	12:100,930,787	A/G	—	uncertain significance
rs1555335820	12:100,930,794	G/A	—	uncertain significance
rs78840164	12:100,930,844	A/C	—	benign
rs1566467890	12:100,934,451	A/T	—	uncertain significance
rs757460153	12:100,934,481	T/C	—	uncertain significance
rs2500723504	12:100,934,494	G/C	—	likely pathogenic
rs772488925	12:100,934,502	G/A	—	uncertain significance
rs1206817325	12:100,934,521	C/T	—	uncertain significance
rs1395063772	12:100,934,556	T/G	—	likely benign
rs1954917377	12:100,934,576	A/C	—	uncertain significance
rs149287629	12:100,934,590	A/C	—	uncertain significance
rs17030297	12:100,934,791	A/G	—	benign
rs17030301	12:100,934,845	C/G	—	benign
rs2888555	12:100,940,259	G/A	—	—
rs10860603	12:100,943,948	G/C	—	—
rs35724	12:100,955,378	C/G	intron variant	benign
rs759597239	12:100,955,653	T/C	—	likely benign
rs764238006	12:100,955,655	C/T	—	uncertain significance

Showing 100 of 117 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.