NFATC1 Chromosome 18

Nuclear factor of activated T cells 1
6 variants 6 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"Nuclear factors of activated T-cells|IPT domain containing"
Locus Type
gene with protein product
Location
18q23
Ensembl
ENSG00000131196
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS199958849 Health Risk Conflicting classifications of pathogenicity
RS376070934 Health Risk Conflicting classifications of pathogenicity
RS376173313 Health Risk Conflicting classifications of pathogenicity
RS753211496 Health Risk Conflicting classifications of pathogenicity
RS754370015 Health Risk Conflicting classifications of pathogenicity
RS779877080 Health Risk Conflicting classifications of pathogenicity
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