CRHR1
corticotropin releasing hormone receptor 1
Summary
This gene encodes a G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response and obesity. Alternative splicing results in multiple transcript variants. Naturally-occurring readthrough transcription between this gene and upstream GeneID:147081 results in transcripts that encode isoforms that share similarity with the products of this gene. [provided by RefSeq, Aug 2016]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7209436 | 17:43,870,142 | C/G | — | — |
| rs12944712 | 17:43,871,147 | G/A | intron variant | — |
| rs56319902 | 17:43,871,982 | C/T | intron variant | — |
| rs4458044 | 17:43,873,727 | G/C | intron variant | — |
| rs4792887 | 17:43,877,020 | C/T | intron variant | — |
| rs110402 | 17:43,880,047 | G/A | intron variant | — |
| rs540802774 | 17:43,881,141 | T/C | — | — |
| rs2061732459 | 17:43,884,376 | G/A | — | uncertain significance |
| rs12936511 | 17:43,884,402 | C/T | synonymous variant | — |
| rs774998390 | 17:43,884,403 | G/A | — | likely benign |
| rs2061733943 | 17:43,884,438 | C/A | — | uncertain significance |
| rs242924 | 17:43,885,367 | G/C | — | — |
| rs242925 | 17:43,888,866 | C/G | — | — |
| rs242941 | 17:43,892,520 | A/T | — | — |
| rs17689471 | 17:43,892,973 | T/C | intron variant | — |
| rs779673418 | 17:43,893,849 | G/A | — | uncertain significance |
| rs8077279 | 17:43,893,884 | T/C | — | benign |
| rs16940655 | 17:43,893,886 | C/T | missense variant | benign |
| rs911300898 | 17:43,893,891 | C/A | — | uncertain significance |
| rs242939 | 17:43,895,579 | C/G | — | — |
| rs62057107 | 17:43,896,032 | C/G | — | — |
| rs79600142 | 17:43,897,722 | T/C | downstream gene variant | — |
| rs372181383 | 17:43,898,762 | G/A | — | uncertain significance |
| rs201421099 | 17:43,898,791 | G/A | — | likely benign |
| rs242936 | 17:43,899,209 | A/G | intron variant | — |
| rs62057121 | 17:43,900,760 | G/A | intron variant | — |
| rs173365 | 17:43,901,074 | A/C | — | — |
| rs17689882 | 17:43,906,828 | G/A | intron variant | — |
| rs542050010 | 17:43,906,979 | G/T | — | likely benign |
| rs576726381 | 17:43,906,980 | C/A | — | likely benign |
| rs141089466 | 17:43,907,450 | G/A | — | benign |
| rs1402133730 | 17:43,907,462 | G/A | — | uncertain significance |
| rs1278905239 | 17:43,907,467 | C/T | — | uncertain significance |
| rs369981455 | 17:43,907,523 | C/T | — | likely benign |
| rs2544239306 | 17:43,907,551 | A/G | — | uncertain significance |
| rs769095476 | 17:43,907,575 | A/G | — | uncertain significance |
| rs547011834 | 17:43,907,578 | G/A | — | uncertain significance |
| rs201514714 | 17:43,907,806 | C/T | — | benign |
| rs16940665 | 17:43,907,896 | T/C | synonymous variant | — |
| rs16940672 | 17:43,908,152 | C/T | intron variant | — |
| rs17689918 | 17:43,910,088 | G/A | intron variant | — |
| rs17689966 | 17:43,910,455 | G/C | — | — |
| rs564745730 | 17:43,910,845 | G/A | — | uncertain significance |
| rs557612026 | 17:43,911,171 | C/T | — | uncertain significance |
| rs777616673 | 17:43,911,177 | G/A | — | uncertain significance |
| rs1876828 | 17:43,911,525 | C/T | intron variant | — |
| rs370869522 | 17:43,912,020 | C/T | — | uncertain significance |
| rs2544266482 | 17:43,912,029 | G/A | — | uncertain significance |
| rs61732578 | 17:43,912,053 | G/A | — | benign |
| rs28364032 | 17:43,912,342 | G/A | 3 prime UTR variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.