NFATC3
nuclear factor of activated T cells 3
Summary
The product of this gene is a member of the nuclear factors 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. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]
Known Variants78 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199532283 | 16:68,119,642 | G/A | — | uncertain significance |
| rs977104054 | 16:68,119,673 | G/A | — | uncertain significance |
| rs12446198 | 16:68,125,972 | G/C | — | — |
| rs72790386 | 16:68,136,932 | G/T | intron variant | — |
| rs75286242 | 16:68,145,798 | C/A | — | — |
| rs7188350 | 16:68,149,316 | T/G | — | — |
| rs147752167 | 16:68,155,968 | G/A | — | uncertain significance |
| rs747401161 | 16:68,155,979 | C/T | — | uncertain significance |
| rs767737653 | 16:68,155,989 | C/T | — | uncertain significance |
| rs2544822509 | 16:68,156,033 | C/T | — | uncertain significance |
| rs62636652 | 16:68,156,198 | C/T | — | benign |
| rs2544822927 | 16:68,156,210 | G/C | — | uncertain significance |
| rs767704241 | 16:68,156,223 | G/C | — | uncertain significance |
| rs780357844 | 16:68,156,258 | C/T | — | uncertain significance |
| rs371500276 | 16:68,156,352 | A/G | — | uncertain significance |
| rs766489525 | 16:68,156,397 | C/T | — | uncertain significance |
| rs1459519456 | 16:68,156,462 | C/T | — | uncertain significance |
| rs2544823590 | 16:68,156,523 | G/A | — | uncertain significance |
| rs373664099 | 16:68,156,567 | T/C | — | uncertain significance |
| rs62636651 | 16:68,156,602 | G/A | — | likely benign |
| rs1490551301 | 16:68,156,663 | C/A | — | uncertain significance |
| rs770208557 | 16:68,156,703 | C/T | — | uncertain significance |
| rs145075379 | 16:68,156,780 | G/C | — | uncertain significance |
| rs147735327 | 16:68,156,834 | A/G | — | likely benign |
| rs142644036 | 16:68,156,891 | C/T | — | uncertain significance |
| rs1280861088 | 16:68,156,892 | G/A | — | uncertain significance |
| rs56230350 | 16:68,166,971 | A/C | intron variant | — |
| rs111701446 | 16:68,187,718 | G/T | — | — |
| rs1330941148 | 16:68,191,772 | C/T | — | uncertain significance |
| rs756335867 | 16:68,191,786 | C/G | — | uncertain significance |
| rs150423397 | 16:68,191,796 | A/G | — | uncertain significance |
| rs777806475 | 16:68,191,800 | A/G | — | uncertain significance |
| rs56097211 | 16:68,198,088 | T/C | intron variant | — |
| rs747647510 | 16:68,200,775 | G/A | — | uncertain significance |
| rs754339885 | 16:68,200,903 | A/G | — | uncertain significance |
| rs144995985 | 16:68,208,306 | A/G | — | uncertain significance |
| rs2039597773 | 16:68,208,318 | A/G | — | uncertain significance |
| rs2545014857 | 16:68,208,319 | G/C | — | uncertain significance |
| rs2039598370 | 16:68,208,337 | T/C | — | uncertain significance |
| rs772345934 | 16:68,215,384 | G/A | — | uncertain significance |
| rs762785017 | 16:68,215,419 | G/A | — | uncertain significance |
| rs376818386 | 16:68,215,420 | A/G | — | uncertain significance |
| rs1399561976 | 16:68,215,426 | G/A | — | uncertain significance |
| rs774142846 | 16:68,217,188 | A/G | — | uncertain significance |
| rs2545046362 | 16:68,217,257 | A/G | — | uncertain significance |
| rs375515080 | 16:68,224,733 | C/T | — | uncertain significance |
| rs906983566 | 16:68,224,770 | C/T | — | uncertain significance |
| rs1183775671 | 16:68,224,780 | A/T | — | likely benign |
| rs2545071343 | 16:68,224,797 | C/T | — | uncertain significance |
| rs572442932 | 16:68,224,823 | A/G | — | uncertain significance |
| rs758286154 | 16:68,224,848 | T/C | — | uncertain significance |
| rs139600005 | 16:68,224,925 | A/G | — | likely benign |
| rs769182317 | 16:68,224,985 | A/G | — | uncertain significance |
| rs750274710 | 16:68,225,049 | A/T | — | uncertain significance |
| rs202171217 | 16:68,225,081 | A/G | — | likely benign |
| rs2545072304 | 16:68,225,156 | A/G | — | uncertain significance |
| rs747362767 | 16:68,225,216 | A/G | — | uncertain significance |
| rs773348777 | 16:68,225,270 | G/A | — | uncertain significance |
| rs547659682 | 16:68,225,291 | T/C | — | uncertain significance |
| rs145880907 | 16:68,225,305 | A/C | — | conflicting classifications of pathogenicity |
| rs373687664 | 16:68,225,310 | T/C | — | uncertain significance |
| rs749464422 | 16:68,225,399 | C/G | — | uncertain significance |
| rs62636649 | 16:68,225,401 | A/G | — | benign |
| rs770754879 | 16:68,225,417 | C/G | — | uncertain significance |
| rs1301506350 | 16:68,225,459 | C/G | — | uncertain significance |
| rs2545073166 | 16:68,225,484 | C/A | — | uncertain significance |
| rs974899063 | 16:68,225,490 | A/G | — | uncertain significance |
| rs1306869381 | 16:68,225,558 | A/C | — | uncertain significance |
| rs375021623 | 16:68,225,597 | A/G | — | uncertain significance |
| rs368080522 | 16:68,225,598 | C/T | — | uncertain significance |
| rs752900691 | 16:68,225,606 | A/G | — | uncertain significance |
| rs919837336 | 16:68,225,628 | G/T | — | uncertain significance |
| rs111632263 | 16:68,233,122 | T/A | upstream gene variant | — |
| rs79719939 | 16:68,240,216 | A/G | upstream gene variant | — |
| rs9938020 | 16:68,251,784 | C/G | intron variant | — |
| rs111402974 | 16:68,252,516 | A/G | intron variant | — |
| rs8048364 | 16:68,253,324 | T/A | — | — |
| rs746089796 | 16:68,260,331 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.