NR3C1
nuclear receptor subfamily 3 group C member 1
Summary
This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]
Known Variants225 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17209237 | 5:142,657,212 | A/G | downstream gene variant | — |
| rs4518436 | 5:142,657,517 | T/A | — | uncertain significance |
| rs10482716 | 5:142,657,577 | G/A | — | uncertain significance |
| rs941331534 | 5:142,657,586 | G/A | — | uncertain significance |
| rs1365619187 | 5:142,657,608 | C/T | — | uncertain significance |
| rs6198 | 5:142,657,621 | T/C | downstream gene variant | benign |
| rs10482715 | 5:142,657,769 | G/C | — | uncertain significance |
| rs61754801 | 5:142,657,874 | A/G | — | uncertain significance |
| rs10482714 | 5:142,657,904 | T/C | — | likely benign |
| rs886060037 | 5:142,657,988 | A/G | — | uncertain significance |
| rs886060038 | 5:142,658,023 | C/G | — | uncertain significance |
| rs771678306 | 5:142,658,048 | G/C | — | uncertain significance |
| rs983670372 | 5:142,658,071 | A/C | — | uncertain significance |
| rs1368015567 | 5:142,658,076 | C/T | — | uncertain significance |
| rs61753512 | 5:142,658,124 | C/A | — | uncertain significance |
| rs886060039 | 5:142,658,135 | C/G | — | uncertain significance |
| rs72542770 | 5:142,658,154 | C/A | — | uncertain significance |
| rs6191 | 5:142,658,156 | C/A | downstream gene variant | benign |
| rs1812677304 | 5:142,658,195 | C/T | — | uncertain significance |
| rs2301177 | 5:142,658,301 | G/A | — | likely benign |
| rs886060040 | 5:142,658,377 | C/T | — | uncertain significance |
| rs72542769 | 5:142,658,378 | G/A | — | likely benign |
| rs886060041 | 5:142,658,408 | C/G | — | uncertain significance |
| rs61753509 | 5:142,658,451 | T/C | — | uncertain significance |
| rs535011433 | 5:142,658,498 | C/T | — | uncertain significance |
| rs555242390 | 5:142,658,507 | A/C | — | uncertain significance |
| rs763603358 | 5:142,658,526 | T/C | — | uncertain significance |
| rs1421087791 | 5:142,658,579 | A/G | — | uncertain significance |
| rs886060042 | 5:142,658,581 | C/T | — | uncertain significance |
| rs906319040 | 5:142,658,833 | A/C | — | uncertain significance |
| rs886060043 | 5:142,658,853 | T/A | — | uncertain significance |
| rs886060044 | 5:142,658,887 | T/C | — | uncertain significance |
| rs886060045 | 5:142,658,933 | A/T | — | uncertain significance |
| rs753145816 | 5:142,659,084 | C/T | — | uncertain significance |
| rs568718223 | 5:142,659,087 | G/A | — | uncertain significance |
| rs6193 | 5:142,659,266 | T/C | regulatory region variant | benign |
| rs746282402 | 5:142,659,303 | T/G | — | uncertain significance |
| rs13306586 | 5:142,659,412 | G/A | — | likely benign |
| rs369162225 | 5:142,659,423 | G/A | — | uncertain significance |
| rs968998036 | 5:142,659,497 | T/C | — | uncertain significance |
| rs1239987236 | 5:142,659,513 | T/G | — | uncertain significance |
| rs10043662 | 5:142,659,574 | T/C | — | likely benign |
| rs1035379863 | 5:142,659,629 | C/G | — | uncertain significance |
| rs372713535 | 5:142,659,826 | T/C | — | uncertain significance |
| rs886060047 | 5:142,659,865 | T/C | — | uncertain significance |
| rs886060048 | 5:142,659,945 | G/T | — | uncertain significance |
| rs1812914163 | 5:142,659,962 | T/C | — | uncertain significance |
| rs1812917346 | 5:142,659,988 | A/G | — | uncertain significance |
| rs572503540 | 5:142,659,990 | T/C | — | uncertain significance |
| rs886060049 | 5:142,660,047 | T/C | — | uncertain significance |
| rs768128384 | 5:142,660,213 | G/A | — | uncertain significance |
| rs61753504 | 5:142,660,278 | G/A | — | uncertain significance |
| rs886060051 | 5:142,660,399 | A/T | — | uncertain significance |
| rs773208301 | 5:142,660,466 | A/G | — | uncertain significance |
| rs766219976 | 5:142,660,500 | G/C | — | uncertain significance |
| rs886060052 | 5:142,660,508 | A/C | — | uncertain significance |
| rs72542760 | 5:142,660,517 | G/T | — | uncertain significance |
| rs1034700180 | 5:142,660,549 | T/A | — | uncertain significance |
| rs182544753 | 5:142,660,646 | A/G | — | uncertain significance |
| rs869125609 | 5:142,660,702 | T/C | — | uncertain significance |
| rs886060056 | 5:142,660,836 | T/C | — | uncertain significance |
| rs924124147 | 5:142,660,920 | A/G | — | uncertain significance |
| rs1396658562 | 5:142,661,161 | T/G | — | uncertain significance |
| rs72542758 | 5:142,661,164 | T/G | — | likely benign |
| rs13306585 | 5:142,661,198 | T/C | — | uncertain significance |
| rs886060059 | 5:142,661,305 | A/G | — | uncertain significance |
| rs72466429 | 5:142,661,320 | C/T | — | uncertain significance |
| rs761674033 | 5:142,661,418 | C/T | — | uncertain significance |
| rs104893912 | 5:142,661,470 | A/G | missense variant | pathogenic |
| rs765982151 | 5:142,661,471 | G/T | — | uncertain significance |
| rs751136795 | 5:142,661,479 | T/C | — | uncertain significance |
| rs886060060 | 5:142,661,481 | G/C | — | uncertain significance |
| rs6196 | 5:142,661,490 | A/G | synonymous variant | benign |
| rs2151472803 | 5:142,661,506 | A/G | — | uncertain significance |
| rs121909726 | 5:142,661,529 | T/A | missense variant | pathogenic |
| rs67300719 | 5:142,661,538 | G/A | — | likely benign |
| rs104893910 | 5:142,661,547 | A/C | missense variant | pathogenic |
| rs757831210 | 5:142,661,555 | T/C | — | uncertain significance |
| rs121909727 | 5:142,661,579 | A/G | missense variant | pathogenic |
| rs1027058734 | 5:142,661,603 | C/T | — | conflicting classifications of pathogenicity |
| rs201764116 | 5:142,661,613 | G/A | — | likely benign |
| rs72542757 | 5:142,661,615 | G/C | — | likely benign |
| rs258750 | 5:142,661,889 | A/G | intron variant | — |
| rs770730144 | 5:142,662,163 | T/G | — | uncertain significance |
| rs774364229 | 5:142,662,172 | C/A | — | likely benign |
| rs2151475967 | 5:142,662,178 | C/T | — | not provided |
| rs2540574059 | 5:142,662,200 | T/C | — | uncertain significance |
| rs1406643989 | 5:142,662,216 | C/T | — | uncertain significance |
| rs68012717 | 5:142,662,253 | A/C | — | benign |
| rs104893914 | 5:142,662,279 | C/T | missense variant | uncertain significance |
| rs258751 | 5:142,662,280 | G/A | synonymous variant | benign |
| rs17209251 | 5:142,669,223 | A/G | intron variant | — |
| rs190488 | 5:142,670,308 | T/G | intron variant | — |
| rs1816973933 | 5:142,675,012 | G/C | — | likely benign |
| rs104893908 | 5:142,675,126 | T/A | missense variant | pathogenic |
| rs1172094764 | 5:142,678,260 | C/T | — | uncertain significance |
| rs376974913 | 5:142,678,280 | T/C | — | likely benign |
| rs61753497 | 5:142,678,328 | G/C | — | likely benign |
| rs6194 | 5:142,678,361 | G/A | synonymous variant | benign |
| rs2540747686 | 5:142,678,368 | T/C | — | uncertain significance |
Showing 100 of 225 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.