NR3C2

nuclear receptor subfamily 3 group C member 2

Summary

This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Known Variants272 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs146849424	4:148,999,914	G/A	—	likely benign
rs1730405375	4:148,999,917	A/C	—	uncertain significance
rs2871	4:149,000,024	C/T	—	benign
rs186309103	4:149,000,085	A/G	—	benign
rs5537	4:149,000,107	A/G	—	benign
rs1171005656	4:149,000,111	A/G	—	uncertain significance
rs886059117	4:149,000,127	G/T	—	uncertain significance
rs886059118	4:149,000,141	A/G	—	uncertain significance
rs886059119	4:149,000,150	A/G	—	uncertain significance
rs1167354543	4:149,000,199	A/G	—	uncertain significance
rs752375846	4:149,000,206	A/C	—	uncertain significance
rs145711262	4:149,000,407	C/T	—	benign
rs72647600	4:149,000,430	T/G	—	benign
rs5536	4:149,000,693	C/T	—	benign
rs1730444075	4:149,000,698	T/C	—	uncertain significance
rs377659495	4:149,000,721	T/C	—	uncertain significance
rs886059121	4:149,000,737	T/C	—	uncertain significance
rs5535	4:149,000,987	T/C	—	benign
rs886059122	4:149,001,002	G/A	—	uncertain significance
rs527827388	4:149,001,004	C/T	—	likely benign
rs886059123	4:149,001,020	A/C	—	uncertain significance
rs1423652712	4:149,001,024	T/C	—	uncertain significance
rs886059124	4:149,001,030	C/T	—	uncertain significance
rs181282602	4:149,001,043	G/A	—	likely benign
rs5534	4:149,001,085	T/C	3 prime UTR variant	benign
rs61763137	4:149,001,089	T/A	—	uncertain significance
rs550508714	4:149,001,130	C/T	—	uncertain significance
rs186795361	4:149,001,143	C/T	—	likely benign
rs879593672	4:149,001,168	G/T	—	uncertain significance
rs886059125	4:149,001,188	G/C	—	uncertain significance
rs773710218	4:149,001,205	C/T	—	uncertain significance
rs118144639	4:149,001,286	C/T	—	benign
rs557553789	4:149,001,289	C/G	—	uncertain significance
rs5533	4:149,001,330	G/A	—	benign
rs114071155	4:149,001,374	A/G	—	benign
rs765227272	4:149,001,385	G/C	—	uncertain significance
rs750409888	4:149,001,407	G/A	—	uncertain significance
rs61763141	4:149,001,463	C/T	—	uncertain significance
rs987993546	4:149,001,476	G/C	—	uncertain significance
rs941511610	4:149,001,571	G/A	—	uncertain significance
rs72648706	4:149,001,605	A/C	—	benign
rs1347200463	4:149,001,682	C/T	—	uncertain significance
rs72648707	4:149,001,691	C/A	—	uncertain significance
rs5532	4:149,001,740	T/G	—	benign
rs751325270	4:149,001,903	C/T	—	uncertain significance
rs552553946	4:149,001,909	C/T	—	uncertain significance
rs766404000	4:149,001,976	C/T	—	uncertain significance
rs886059127	4:149,002,079	A/G	—	uncertain significance
rs17024360	4:149,002,083	G/A	—	benign
rs530957356	4:149,002,116	C/T	—	uncertain significance
rs548954265	4:149,002,139	T/C	—	uncertain significance
rs201950852	4:149,002,170	C/T	—	uncertain significance
rs886059128	4:149,002,171	G/A	—	uncertain significance
rs1730537936	4:149,002,371	C/G	—	uncertain significance
rs1730539707	4:149,002,405	T/C	—	uncertain significance
rs5530	4:149,002,409	A/G	—	benign
rs772531453	4:149,002,488	C/T	—	likely benign
rs373627783	4:149,002,489	G/A	—	uncertain significance
rs121912567	4:149,002,514	A/G	missense variant	pathogenic
rs1313773823	4:149,002,517	G/A	—	uncertain significance
rs1279182668	4:149,002,518	G/T	—	uncertain significance
rs121912574	4:149,002,535	T/C	missense variant	pathogenic
rs377077242	4:149,002,561	G/A	—	likely benign
rs535338611	4:149,002,579	G/A	—	likely benign
rs2530398907	4:149,002,590	C/T	—	uncertain significance
rs1281816539	4:149,002,608	C/T	—	uncertain significance
rs1730554872	4:149,002,610	C/G	—	uncertain significance
rs121912569	4:149,002,611	G/A	stop gained	pathogenic
rs886059129	4:149,002,641	C/T	—	uncertain significance
rs61763143	4:149,002,667	G/C	—	benign
rs3733421	4:149,002,841	T/C	—	benign
rs367885990	4:149,035,235	C/A	—	likely benign
rs1732166299	4:149,035,250	C/T	—	uncertain significance
rs2530538343	4:149,035,254	C/T	—	pathogenic
rs121912563	4:149,035,283	A/G	missense variant	pathogenic
rs1553986374	4:149,035,287	G/A	—	likely pathogenic
rs1553986377	4:149,035,299	G/A	—	pathogenic
rs1732169191	4:149,035,309	C/T	—	uncertain significance
rs199889429	4:149,035,357	G/A	—	likely benign
rs1560928649	4:149,035,397	A/C	—	likely pathogenic
rs2530539414	4:149,035,413	C/G	—	likely pathogenic
rs1879829	4:149,035,449	T/C	—	benign
rs77046772	4:149,035,587	G/T	—	benign
rs12499208	4:149,041,057	T/C	—	benign
rs1732448996	4:149,041,296	G/A	—	likely benign
rs72648712	4:149,041,303	A/G	—	benign
rs147398624	4:149,041,372	C/T	—	likely benign
rs140705228	4:149,041,373	G/A	—	benign
rs2530564752	4:149,041,416	A/C	—	uncertain significance
rs1040288	4:149,048,117	G/C	regulatory region variant	—
rs2272089	4:149,073,555	T/C	—	benign
rs1433448874	4:149,073,611	G/A	—	likely benign
rs748855088	4:149,073,656	T/C	—	uncertain significance
rs368406158	4:149,073,664	C/T	—	likely benign
rs2530679674	4:149,073,673	G/T	—	pathogenic
rs121912573	4:149,073,677	G/A	missense variant	pathogenic
rs2530679858	4:149,073,692	G/A	—	uncertain significance
rs41511344	4:149,073,701	G/A	missense variant	pathogenic
rs145670736	4:149,073,703	T/C	—	likely benign
rs548602386	4:149,073,718	A/G	—	benign

Showing 100 of 272 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.