NRG1
neuregulin 1
Summary
The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]
Known Variants112 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6994992 | 8:31,495,581 | C/T | upstream gene variant | — |
| rs7014762 | 8:31,495,668 | A/T | upstream gene variant | — |
| rs367543150 | 8:31,497,511 | G/A | — | benign |
| rs761240700 | 8:31,497,515 | C/G | — | likely benign |
| rs367543151 | 8:31,497,526 | G/A | — | likely benign |
| rs367543152 | 8:31,497,543 | C/T | — | not provided |
| rs367543153 | 8:31,497,608 | G/A | — | not provided |
| rs367543154 | 8:31,497,623 | C/A | — | not provided |
| rs113317778 | 8:31,497,672 | A/G | — | benign |
| rs367543155 | 8:31,497,691 | C/T | — | likely benign |
| rs199941564 | 8:31,497,724 | T/C | — | benign |
| rs367543156 | 8:31,497,812 | G/A | — | likely benign |
| rs367543157 | 8:31,497,850 | C/T | — | benign |
| rs367543158 | 8:31,497,860 | G/T | — | not provided |
| rs61730349 | 8:31,497,973 | C/T | — | benign |
| rs1081062 | 8:31,500,264 | G/A | intron variant | — |
| rs10503887 | 8:31,633,447 | G/C | — | — |
| rs1354336 | 8:31,644,871 | C/T | intron variant | — |
| rs1383890 | 8:31,721,207 | C/G | — | — |
| rs536771730 | 8:31,772,521 | C/T | — | — |
| rs1462872 | 8:31,794,109 | A/G | intron variant | — |
| rs383632 | 8:31,806,048 | T/C | intron variant | — |
| rs552524684 | 8:31,829,008 | C/T | — | — |
| rs1462891 | 8:31,830,933 | T/C | intron variant | — |
| rs1462906 | 8:31,896,592 | T/C | intron variant | — |
| rs10093107 | 8:32,026,449 | C/T | upstream gene variant | — |
| rs139389953 | 8:32,034,125 | G/A | intron variant | — |
| rs142461954 | 8:32,034,133 | A/C | intron variant | — |
| rs1825146 | 8:32,085,677 | A/C | intron variant | — |
| rs61503226 | 8:32,120,354 | T/A | — | — |
| rs1481758 | 8:32,131,798 | C/T | intron variant | — |
| rs1487141 | 8:32,139,652 | G/A | — | — |
| rs530990812 | 8:32,144,057 | C/A | — | — |
| rs1386438 | 8:32,195,543 | T/G | intron variant | — |
| rs12542743 | 8:32,318,355 | T/C | intron variant | — |
| rs10097555 | 8:32,346,295 | G/A | intron variant | — |
| rs7820676 | 8:32,397,933 | C/G | intron variant | — |
| rs6996585 | 8:32,400,803 | A/G | upstream gene variant | — |
| rs7005606 | 8:32,401,501 | T/G | upstream gene variant | — |
| rs6468119 | 8:32,401,561 | T/A | — | — |
| rs7823498 | 8:32,403,573 | C/T | upstream gene variant | — |
| rs3802160 | 8:32,404,629 | A/G | regulatory region variant | — |
| rs36213229 | 8:32,405,517 | G/T | regulatory region variant | — |
| rs367543159 | 8:32,406,274 | A/C | — | not provided |
| rs113350646 | 8:32,406,549 | G/A | regulatory region variant | — |
| rs16879552 | 8:32,411,216 | C/T | intron variant | — |
| rs7835688 | 8:32,411,499 | G/A | — | — |
| rs2439312 | 8:32,412,359 | A/G | regulatory region variant | — |
| rs9642727 | 8:32,414,032 | A/C | regulatory region variant | — |
| rs17719705 | 8:32,414,332 | A/T | intron variant | — |
| rs9642699 | 8:32,414,614 | A/G | intron variant | — |
| rs7825175 | 8:32,416,274 | G/C | — | — |
| rs2439305 | 8:32,429,464 | G/A | regulatory region variant | — |
| rs2439302 | 8:32,432,369 | G/C | regulatory region variant | — |
| rs2466077 | 8:32,432,753 | G/T | regulatory region variant | — |
| rs73234167 | 8:32,433,604 | C/T | intron variant | — |
| rs10102889 | 8:32,435,620 | C/G | regulatory region variant | — |
| rs17664708 | 8:32,437,017 | C/T | regulatory region variant | — |
| rs7842773 | 8:32,438,222 | G/A | intron variant | — |
| rs60944982 | 8:32,439,109 | T/C | intron variant | — |
| rs72634851 | 8:32,440,790 | A/G | intron variant | — |
| rs10503921 | 8:32,441,335 | T/A | regulatory region variant | — |
| rs68030583 | 8:32,441,559 | T/C | — | — |
| rs111977432 | 8:32,441,575 | A/C | — | — |
| rs12056746 | 8:32,442,627 | A/G | intron variant | — |
| rs4341129 | 8:32,445,668 | G/A | — | — |
| rs201046028 | 8:32,453,356 | C/G | — | likely benign |
| rs3924999 | 8:32,453,358 | G/A | missense variant | benign |
| rs367543160 | 8:32,453,385 | C/T | — | not provided |
| rs147561043 | 8:32,453,386 | G/A | — | benign |
| rs949953365 | 8:32,453,407 | C/T | — | likely benign |
| rs201451670 | 8:32,453,478 | A/T | — | uncertain significance |
| rs10954864 | 8:32,461,497 | G/T | — | — |
| rs142663418 | 8:32,463,083 | G/A | — | likely benign |
| rs777137810 | 8:32,463,133 | T/C | — | affects |
| rs79277882 | 8:32,472,045 | T/C | — | benign |
| rs7825588 | 8:32,504,401 | G/A | intron variant | — |
| rs34918173 | 8:32,505,337 | C/A | — | benign |
| rs3735774 | 8:32,505,372 | G/A | — | benign |
| rs34822181 | 8:32,505,615 | G/C | — | likely benign |
| rs35641374 | 8:32,505,633 | G/C | — | likely benign |
| rs16879689 | 8:32,516,152 | C/A | — | — |
| rs2954041 | 8:32,522,626 | G/T | intron variant | — |
| rs764059 | 8:32,531,292 | G/T | — | — |
| rs2919386 | 8:32,555,685 | A/C | intron variant | — |
| rs1589449105 | 8:32,585,564 | A/G | — | likely benign |
| rs367543161 | 8:32,599,572 | A/G | — | not provided |
| rs74942016 | 8:32,611,970 | T/G | — | likely benign |
| rs367543162 | 8:32,613,936 | G/T | — | not provided |
| rs367543163 | 8:32,613,952 | C/G | — | not provided |
| rs367543164 | 8:32,613,974 | G/A | — | not provided |
| rs10503929 | 8:32,613,983 | T/C | missense variant | benign |
| rs367543165 | 8:32,614,010 | A/G | — | not provided |
| rs367543166 | 8:32,616,898 | T/C | — | not provided |
| rs79223941 | 8:32,617,713 | T/C | — | likely benign |
| rs16879949 | 8:32,617,714 | G/A | — | benign |
| rs772910330 | 8:32,617,751 | C/T | — | likely benign |
| rs61731510 | 8:32,617,752 | G/A | — | benign |
| rs774731045 | 8:32,617,760 | C/T | — | likely benign |
| rs78015342 | 8:32,617,814 | G/T | — | likely benign |
Showing 100 of 112 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.