NFATC1

nuclear factor of activated T cells 1

Summary

The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]

Known Variants222 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs74183647	18:77,156,171	G/C	regulatory region variant	—
rs1205294889	18:77,156,261	C/G	—	uncertain significance
rs761194713	18:77,156,275	G/A	—	likely benign
rs777561014	18:77,156,313	C/T	—	uncertain significance
rs780732210	18:77,156,326	C/T	—	likely benign
rs200585424	18:77,156,328	G/A	—	benign
rs374280400	18:77,156,329	C/T	—	benign
rs2517341787	18:77,156,334	T/C	—	uncertain significance
rs367875822	18:77,156,364	C/T	—	likely benign
rs776887252	18:77,156,370	C/G	—	likely benign
rs56376587	18:77,160,235	A/C	regulatory region variant	—
rs1249819200	18:77,160,399	G/A	—	uncertain significance
rs747343711	18:77,160,407	G/A	—	uncertain significance
rs371822461	18:77,160,428	T/A	—	uncertain significance
rs118035325	18:77,160,748	C/G	—	—
rs8091180	18:77,164,243	G/A	regulatory region variant	—
rs772917536	18:77,170,388	T/G	—	likely benign
rs376982606	18:77,170,391	T/A	—	likely benign
rs763800698	18:77,170,424	C/T	—	uncertain significance
rs150374931	18:77,170,428	C/T	—	uncertain significance
rs145547762	18:77,170,437	C/T	—	likely benign
rs755428183	18:77,170,438	G/T	—	uncertain significance
rs138155687	18:77,170,446	G/A	—	likely benign
rs149504014	18:77,170,454	C/T	—	uncertain significance
rs776245598	18:77,170,458	G/A	—	likely benign
rs2517412592	18:77,170,461	C/G	—	uncertain significance
rs2517412638	18:77,170,469	T/G	—	uncertain significance
rs763456269	18:77,170,470	G/C	—	likely benign
rs1051978	18:77,170,477	A/C	—	benign
rs138101748	18:77,170,479	G/A	—	benign
rs2517412713	18:77,170,480	T/C	—	uncertain significance
rs375567329	18:77,170,488	C/T	—	likely benign
rs140711063	18:77,170,498	T/G	—	uncertain significance
rs781085351	18:77,170,506	G/A	—	likely benign
rs149452763	18:77,170,512	C/T	—	benign
rs55863211	18:77,170,542	C/T	—	benign
rs150029004	18:77,170,543	G/A	—	uncertain significance
rs1291703383	18:77,170,544	G/T	—	uncertain significance
rs2517413139	18:77,170,560	T/C	—	likely benign
rs1063668	18:77,170,566	C/T	—	benign
rs375266848	18:77,170,567	G/T	—	uncertain significance
rs373889524	18:77,170,568	C/T	—	uncertain significance
rs2230113	18:77,170,569	G/A	—	benign
rs780043422	18:77,170,635	C/T	—	likely benign
rs775904780	18:77,170,687	G/A	—	uncertain significance
rs2517414153	18:77,170,712	C/T	—	uncertain significance
rs767725943	18:77,170,724	G/A	—	uncertain significance
rs780721421	18:77,170,766	C/G	—	uncertain significance
rs538981258	18:77,170,799	G/C	—	uncertain significance
rs1032564535	18:77,170,814	G/A	—	uncertain significance
rs140225213	18:77,170,842	C/T	—	benign
rs777674609	18:77,170,854	C/T	—	likely benign
rs2085646702	18:77,170,856	C/T	—	uncertain significance
rs145272516	18:77,170,858	T/C	—	uncertain significance
rs1458299519	18:77,170,872	C/T	—	likely benign
rs1295115387	18:77,170,892	A/C	—	uncertain significance
rs62096875	18:77,170,903	G/A	—	uncertain significance
rs577582640	18:77,170,911	C/G	—	likely benign
rs747539706	18:77,170,920	G/A	—	likely benign
rs150129624	18:77,170,945	G/A	—	uncertain significance
rs12605457	18:77,170,966	C/G	—	uncertain significance
rs149308374	18:77,170,978	C/T	—	uncertain significance
rs61731548	18:77,170,998	G/A	—	benign
rs1366389032	18:77,171,005	G/A	—	likely benign
rs766008884	18:77,171,020	G/A	—	uncertain significance
rs370687286	18:77,171,038	C/T	—	uncertain significance
rs201418973	18:77,171,039	G/A	—	uncertain significance
rs752233957	18:77,171,045	C/G	—	uncertain significance
rs139169385	18:77,171,053	G/A	—	uncertain significance
rs2230112	18:77,171,061	G/T	—	benign
rs1252178216	18:77,171,066	A/G	—	uncertain significance
rs201979657	18:77,171,089	G/A	—	uncertain significance
rs372719440	18:77,171,099	C/T	—	likely benign
rs758525737	18:77,171,120	C/T	—	uncertain significance
rs2148189289	18:77,171,124	C/G	—	likely benign
rs371345641	18:77,171,129	C/T	—	uncertain significance
rs1063670	18:77,171,130	G/A	—	benign
rs200533002	18:77,171,135	C/T	—	uncertain significance
rs754370015	18:77,171,140	G/A	—	conflicting classifications of pathogenicity
rs1352420129	18:77,171,149	C/T	—	uncertain significance
rs150655822	18:77,171,156	G/C	—	uncertain significance
rs76525142	18:77,171,164	G/A	—	likely benign
rs764193594	18:77,171,197	A/G	—	uncertain significance
rs577696155	18:77,171,227	G/A	—	uncertain significance
rs2085666505	18:77,171,262	T/C	—	likely benign
rs376890135	18:77,171,265	C/T	—	likely benign
rs146691249	18:77,171,316	G/A	—	likely benign
rs139217071	18:77,171,331	C/T	—	benign
rs143975184	18:77,171,344	C/A	—	uncertain significance
rs372110997	18:77,171,363	C/T	—	uncertain significance
rs201081010	18:77,171,364	G/A	—	likely benign
rs181064956	18:77,171,374	G/A	—	uncertain significance
rs149101267	18:77,171,376	G/A	—	likely benign
rs143180395	18:77,171,379	C/T	—	benign
rs151234177	18:77,171,386	T/G	—	uncertain significance
rs141310123	18:77,171,390	C/A	—	uncertain significance
rs776916137	18:77,171,444	C/T	—	uncertain significance
rs1170407308	18:77,171,456	A/G	—	uncertain significance
rs201530582	18:77,171,465	C/T	—	likely benign
rs1264456924	18:77,171,479	C/G	—	uncertain significance

Showing 100 of 222 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.