NFAT5

nuclear factor of activated T cells 5

Summary

The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants608 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs373280302	16:69,600,243	A/C	—	likely benign
rs767609743	16:69,602,407	A/G	—	uncertain significance
rs10852456	16:69,605,613	G/T	intron variant	—
rs244423	16:69,610,002	A/G	intron variant	—
rs168637	16:69,619,388	T/G	intron variant	—
rs669696	16:69,626,136	C/T	—	—
rs35674882	16:69,633,123	A/C	—	—
rs39999	16:69,653,696	C/G	regulatory region variant	—
rs190282	16:69,656,889	G/A	intron variant	—
rs141097482	16:69,660,329	A/G	—	uncertain significance
rs2543787547	16:69,660,399	C/T	—	uncertain significance
rs244416	16:69,665,208	T/C	intron variant	—
rs369918817	16:69,680,960	A/G	—	uncertain significance
rs1244127993	16:69,680,961	T/C	—	uncertain significance
rs750127974	16:69,680,965	C/T	—	likely benign
rs755756855	16:69,680,966	G/A	—	uncertain significance
rs2035466318	16:69,680,971	T/C	—	likely benign
rs2035467918	16:69,681,002	A/G	—	uncertain significance
rs2151621305	16:69,681,003	C/T	—	uncertain significance
rs753363604	16:69,681,004	C/T	—	likely benign
rs2543920367	16:69,681,012	C/G	—	uncertain significance
rs2151621367	16:69,681,016	C/T	—	likely benign
rs200844772	16:69,681,018	C/T	—	uncertain significance
rs1042925684	16:69,681,023	A/G	—	uncertain significance
rs2035469289	16:69,681,025	C/A	—	likely benign
rs1278261387	16:69,681,026	G/A	—	uncertain significance
rs201604723	16:69,681,028	C/T	—	likely benign
rs747303047	16:69,681,038	A/T	—	uncertain significance
rs200580359	16:69,681,049	G/C	—	uncertain significance
rs138585527	16:69,681,064	C/T	—	likely benign
rs200933617	16:69,681,065	G/A	—	benign
rs1166261719	16:69,681,067	G/T	—	likely benign
rs2543921413	16:69,681,079	C/G	—	uncertain significance
rs1379586467	16:69,681,086	G/A	—	uncertain significance
rs1005932189	16:69,681,101	T/A	—	uncertain significance
rs1196963400	16:69,681,103	A/C	—	uncertain significance
rs377380596	16:69,681,105	C/T	—	uncertain significance
rs148886916	16:69,681,107	A/G	—	conflicting classifications of pathogenicity
rs2543921704	16:69,681,108	G/A	—	uncertain significance
rs143475718	16:69,681,114	C/T	—	uncertain significance
rs764631262	16:69,681,130	A/G	—	likely benign
rs1453397225	16:69,681,134	A/G	—	uncertain significance
rs1029531992	16:69,681,138	C/T	—	uncertain significance
rs1372359943	16:69,681,145	G/A	—	likely benign
rs2543922135	16:69,681,150	C/T	—	uncertain significance
rs1481354524	16:69,681,160	C/T	—	likely benign
rs781587305	16:69,681,161	A/G	—	uncertain significance
rs2035478468	16:69,681,164	T/C	—	uncertain significance
rs2543922409	16:69,681,168	C/T	—	uncertain significance
rs769953709	16:69,681,172	A/G	—	likely benign
rs2151621771	16:69,681,176	G/A	—	uncertain significance
rs2151621780	16:69,681,178	G/A	—	likely benign
rs779989621	16:69,681,181	C/T	—	likely benign
rs1264938672	16:69,681,184	G/A	—	likely benign
rs748172080	16:69,681,212	G/C	—	uncertain significance
rs2035480397	16:69,681,217	G/A	—	likely benign
rs773069993	16:69,681,219	G/A	—	uncertain significance
rs56393495	16:69,681,220	G/A	—	benign
rs1039090408	16:69,681,222	G/A	—	uncertain significance
rs770668167	16:69,681,227	T/G	—	uncertain significance
rs775227883	16:69,681,234	C/A	—	uncertain significance
rs752137755	16:69,681,282	G/A	—	uncertain significance
rs138012931	16:69,681,286	C/T	—	likely benign
rs752063700	16:69,681,287	A/G	—	uncertain significance
rs2151622067	16:69,681,299	T/G	—	uncertain significance
rs1187292708	16:69,681,319	G/A	—	likely benign
rs1488062932	16:69,681,336	G/A	—	uncertain significance
rs1186884192	16:69,681,343	A/G	—	likely benign
rs2543924028	16:69,681,364	G/A	—	likely benign
rs1170182479	16:69,681,369	A/G	—	uncertain significance
rs143392508	16:69,681,370	A/G	—	benign
rs1163354749	16:69,681,375	G/A	—	uncertain significance
rs746931663	16:69,681,412	C/T	—	likely benign
rs2543924492	16:69,681,418	T/C	—	likely benign
rs2151622284	16:69,681,432	A/T	—	uncertain significance
rs759293299	16:69,681,439	G/A	—	likely benign
rs928159727	16:69,681,456	C/T	—	uncertain significance
rs1435158275	16:69,681,457	G/A	—	likely benign
rs2543924891	16:69,681,473	T/C	—	uncertain significance
rs762391891	16:69,681,481	G/A	—	likely benign
rs1391597908	16:69,681,486	A/G	—	uncertain significance
rs752147639	16:69,681,493	G/A	—	uncertain significance
rs201212691	16:69,681,508	T/A	—	benign
rs768049317	16:69,681,509	A/T	—	likely benign
rs773730369	16:69,687,134	C/G	—	likely benign
rs2035749704	16:69,687,140	A/G	—	uncertain significance
rs2543968539	16:69,687,144	T/G	—	uncertain significance
rs2543968740	16:69,687,170	A/G	—	uncertain significance
rs2543968764	16:69,687,174	A/G	—	uncertain significance
rs2035750914	16:69,687,182	A/G	—	uncertain significance
rs530092980	16:69,687,196	A/G	—	likely benign
rs2151632845	16:69,687,199	T/C	—	likely benign
rs2543969124	16:69,687,200	C/T	—	uncertain significance
rs1457665601	16:69,687,204	T/C	—	uncertain significance
rs1170501351	16:69,687,247	G/A	—	likely benign
rs779894815	16:69,687,265	G/A	—	likely benign
rs2543969825	16:69,687,268	C/T	—	likely benign
rs1278786133	16:69,687,274	T/C	—	likely benign
rs2543970077	16:69,687,290	T/C	—	uncertain significance
rs774078368	16:69,687,301	T/C	—	likely benign

Showing 100 of 608 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.