NR1D2
nuclear receptor subfamily 1 group D member 2
Summary
This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1403505682 | 3:23,987,076 | G/A | — | uncertain significance |
| rs9862416 | 3:23,987,842 | A/G | regulatory region variant | — |
| rs7631394 | 3:23,990,586 | G/A | regulatory region variant | — |
| rs5001573 | 3:23,991,717 | C/A | — | — |
| rs4619736 | 3:23,992,383 | C/T | upstream gene variant | — |
| rs4131403 | 3:23,993,437 | A/C | — | — |
| rs750368358 | 3:23,996,043 | A/C | — | uncertain significance |
| rs1204638551 | 3:23,996,192 | G/A | — | uncertain significance |
| rs1265407184 | 3:23,996,195 | A/T | — | uncertain significance |
| rs568010643 | 3:23,996,196 | A/G | — | likely benign |
| rs144648705 | 3:23,997,574 | G/A | — | likely benign |
| rs61732085 | 3:23,997,604 | C/T | — | benign |
| rs1706185975 | 3:24,001,229 | C/T | — | uncertain significance |
| rs1358487339 | 3:24,003,473 | C/T | — | likely pathogenic |
| rs1397599476 | 3:24,003,552 | G/T | — | uncertain significance |
| rs2471323594 | 3:24,003,614 | C/T | — | uncertain significance |
| rs535714091 | 3:24,003,661 | C/G | — | uncertain significance |
| rs2471324079 | 3:24,003,719 | G/T | — | uncertain significance |
| rs148998610 | 3:24,003,768 | A/G | — | uncertain significance |
| rs369397783 | 3:24,003,783 | G/A | — | uncertain significance |
| rs369187169 | 3:24,003,841 | T/A | — | uncertain significance |
| rs150707682 | 3:24,003,846 | A/G | — | uncertain significance |
| rs149949793 | 3:24,003,852 | G/A | — | uncertain significance |
| rs1331108245 | 3:24,006,562 | A/G | — | uncertain significance |
| rs777009620 | 3:24,006,620 | C/G | — | uncertain significance |
| rs1345580608 | 3:24,006,650 | T/G | — | uncertain significance |
| rs753511124 | 3:24,009,317 | G/A | — | uncertain significance |
| rs61755049 | 3:24,009,341 | A/G | — | uncertain significance |
| rs2471335384 | 3:24,009,397 | T/G | — | uncertain significance |
| rs28522849 | 3:24,015,140 | A/G | intron variant | — |
| rs770679428 | 3:24,018,746 | G/C | — | uncertain significance |
| rs780912474 | 3:24,018,811 | G/C | — | uncertain significance |
| rs148465035 | 3:24,018,818 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.