NLRP9
NLR family pyrin domain containing 9
Summary
The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs367892780 | 19:56,220,310 | C/T | — | uncertain significance |
| rs753356427 | 19:56,220,311 | G/A | — | likely benign |
| rs151017994 | 19:56,221,458 | T/A | downstream gene variant | — |
| rs199476231 | 19:56,223,138 | C/T | — | not provided |
| rs199475850 | 19:56,223,257 | G/T | — | uncertain significance |
| rs148511077 | 19:56,223,314 | A/G | — | uncertain significance |
| rs772727368 | 19:56,223,322 | G/A | — | uncertain significance |
| rs199476230 | 19:56,223,672 | G/A | — | not provided |
| rs146098794 | 19:56,223,788 | G/A | — | benign |
| rs373990608 | 19:56,223,795 | T/A | — | uncertain significance |
| rs780476740 | 19:56,223,796 | C/G | — | uncertain significance |
| rs756863956 | 19:56,223,915 | A/G | — | uncertain significance |
| rs199476229 | 19:56,223,996 | G/C | — | not provided |
| rs73933317 | 19:56,226,457 | G/A | — | benign |
| rs559544386 | 19:56,226,470 | A/G | — | uncertain significance |
| rs778482060 | 19:56,226,490 | A/G | — | uncertain significance |
| rs199476228 | 19:56,227,351 | C/A | — | not provided |
| rs138496520 | 19:56,228,104 | C/T | — | benign |
| rs374061744 | 19:56,228,215 | C/A | — | uncertain significance |
| rs763253300 | 19:56,235,407 | A/T | — | likely benign |
| rs202130897 | 19:56,235,416 | G/T | — | uncertain significance |
| rs201349141 | 19:56,235,417 | G/T | — | uncertain significance |
| rs375031940 | 19:56,235,425 | C/T | — | uncertain significance |
| rs772313523 | 19:56,235,500 | C/G | — | uncertain significance |
| rs776128830 | 19:56,241,315 | A/T | — | uncertain significance |
| rs150982652 | 19:56,241,332 | C/T | — | uncertain significance |
| rs751390232 | 19:56,241,333 | G/A | — | uncertain significance |
| rs200243299 | 19:56,241,342 | C/T | — | uncertain significance |
| rs201287604 | 19:56,241,353 | T/C | — | uncertain significance |
| rs2514352208 | 19:56,243,408 | A/C | — | uncertain significance |
| rs375858611 | 19:56,243,422 | G/C | — | uncertain significance |
| rs146240166 | 19:56,243,435 | A/G | — | likely benign |
| rs368304765 | 19:56,243,437 | T/C | — | uncertain significance |
| rs779746863 | 19:56,243,486 | A/G | — | uncertain significance |
| rs200767296 | 19:56,243,492 | A/G | — | uncertain significance |
| rs753537736 | 19:56,243,521 | G/A | — | uncertain significance |
| rs376006152 | 19:56,243,559 | G/C | — | uncertain significance |
| rs149058876 | 19:56,243,611 | C/A | — | uncertain significance |
| rs1404246574 | 19:56,243,672 | T/G | — | uncertain significance |
| rs143788176 | 19:56,243,714 | T/C | — | likely benign |
| rs369674268 | 19:56,243,789 | T/A | — | uncertain significance |
| rs146896528 | 19:56,243,804 | C/T | — | uncertain significance |
| rs2514352798 | 19:56,243,832 | C/T | — | uncertain significance |
| rs73615267 | 19:56,243,859 | C/A | — | benign |
| rs768887694 | 19:56,243,874 | A/C | — | uncertain significance |
| rs1292452938 | 19:56,243,900 | G/A | — | uncertain significance |
| rs201209236 | 19:56,243,909 | C/T | — | uncertain significance |
| rs543041441 | 19:56,243,937 | T/A | — | uncertain significance |
| rs563256174 | 19:56,243,947 | C/T | — | uncertain significance |
| rs199475849 | 19:56,243,979 | A/G | — | not provided |
| rs763360247 | 19:56,244,077 | T/C | — | uncertain significance |
| rs199475848 | 19:56,244,141 | C/G | — | not provided |
| rs199475847 | 19:56,244,175 | C/A | — | not provided |
| rs2514353504 | 19:56,244,202 | A/T | — | uncertain significance |
| rs780765416 | 19:56,244,238 | A/G | — | likely benign |
| rs1003044666 | 19:56,244,295 | G/A | — | uncertain significance |
| rs775007010 | 19:56,244,401 | G/A | — | uncertain significance |
| rs1568604129 | 19:56,244,424 | C/T | — | uncertain significance |
| rs753231704 | 19:56,244,463 | T/C | — | uncertain significance |
| rs1988647655 | 19:56,244,478 | T/C | — | uncertain significance |
| rs371034160 | 19:56,244,522 | G/C | — | uncertain significance |
| rs778498439 | 19:56,244,557 | C/T | — | uncertain significance |
| rs773656654 | 19:56,244,763 | C/T | — | uncertain significance |
| rs370274005 | 19:56,244,767 | T/C | — | likely benign |
| rs201173222 | 19:56,244,779 | T/C | — | likely benign |
| rs56235790 | 19:56,244,783 | T/C | — | benign |
| rs142502675 | 19:56,244,796 | T/C | — | uncertain significance |
| rs927717702 | 19:56,244,833 | G/A | — | uncertain significance |
| rs45597436 | 19:56,244,837 | A/G | — | benign |
| rs2514359855 | 19:56,249,520 | T/C | — | likely benign |
| rs142730505 | 19:56,249,579 | A/G | — | benign |
| rs2514360018 | 19:56,249,604 | T/A | — | uncertain significance |
| rs183607028 | 19:56,249,630 | A/C | — | likely benign |
| rs1369521221 | 19:56,249,653 | G/A | — | uncertain significance |
| rs199475846 | 19:56,249,721 | G/A | — | not provided |
Gene information from NCBI Gene. Variant classifications from ClinVar.