NLRP6
NLR family pyrin domain containing 6
Summary
The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Known Variants96 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199475788 | 11:278,404 | G/A | — | not provided |
| rs2539118636 | 11:278,589 | C/T | — | uncertain significance |
| rs199475789 | 11:278,820 | A/G | — | not provided |
| rs199475790 | 11:278,848 | G/A | — | not provided |
| rs199475791 | 11:278,992 | G/A | — | not provided |
| rs199475792 | 11:279,056 | C/G | — | not provided |
| rs199475793 | 11:279,242 | G/A | — | not provided |
| rs199475794 | 11:279,307 | C/G | — | not provided |
| rs569717686 | 11:279,335 | C/G | — | uncertain significance |
| rs866744812 | 11:279,434 | C/T | — | likely benign |
| rs199475795 | 11:279,481 | G/A | — | not provided |
| rs199475796 | 11:279,558 | G/A | — | not provided |
| rs1024384160 | 11:279,592 | G/A | — | uncertain significance |
| rs199475797 | 11:279,792 | G/C | — | not provided |
| rs199475798 | 11:279,808 | G/T | — | not provided |
| rs199475799 | 11:279,819 | C/A | — | not provided |
| rs370068708 | 11:279,834 | G/T | — | uncertain significance |
| rs199475800 | 11:279,975 | G/A | — | not provided |
| rs201653082 | 11:280,173 | T/C | — | uncertain significance |
| rs535652804 | 11:280,275 | A/G | — | uncertain significance |
| rs199475801 | 11:280,316 | G/A | — | not provided |
| rs1371690916 | 11:280,344 | G/A | — | uncertain significance |
| rs141755467 | 11:280,403 | G/C | — | uncertain significance |
| rs929292738 | 11:280,414 | G/A | — | uncertain significance |
| rs1191362785 | 11:280,440 | C/A | — | uncertain significance |
| rs1430027136 | 11:280,507 | C/T | — | uncertain significance |
| rs199475802 | 11:280,520 | G/C | — | not provided |
| rs199475803 | 11:280,529 | G/A | — | not provided |
| rs997277706 | 11:280,534 | T/C | — | uncertain significance |
| rs757185727 | 11:280,545 | C/T | — | likely benign |
| rs199475804 | 11:280,585 | T/C | — | not provided |
| rs1845458986 | 11:280,653 | G/C | — | uncertain significance |
| rs2134007917 | 11:280,689 | A/G | — | uncertain significance |
| rs199475805 | 11:280,700 | G/C | — | not provided |
| rs781427917 | 11:280,713 | C/A | — | uncertain significance |
| rs1845461208 | 11:280,756 | C/T | — | uncertain significance |
| rs372441368 | 11:280,950 | C/T | — | uncertain significance |
| rs199475806 | 11:281,005 | C/A | — | not provided |
| rs1845467267 | 11:281,043 | C/G | — | uncertain significance |
| rs1412920263 | 11:281,083 | G/T | — | uncertain significance |
| rs1044785503 | 11:281,097 | G/A | — | uncertain significance |
| rs778098851 | 11:281,100 | C/T | — | uncertain significance |
| rs752030144 | 11:281,101 | G/A | — | uncertain significance |
| rs1432155894 | 11:281,151 | T/G | — | uncertain significance |
| rs2539123526 | 11:281,221 | A/G | — | uncertain significance |
| rs116081663 | 11:281,283 | G/A | — | likely benign |
| rs78244878 | 11:281,289 | C/A | — | benign |
| rs1590269671 | 11:281,333 | C/A | — | uncertain significance |
| rs1270300661 | 11:281,352 | T/G | — | uncertain significance |
| rs2539123813 | 11:281,365 | C/T | — | uncertain significance |
| rs199475807 | 11:281,399 | G/A | — | not provided |
| rs779813909 | 11:281,415 | C/A | — | uncertain significance |
| rs1366989190 | 11:281,436 | T/G | — | uncertain significance |
| rs748222087 | 11:281,464 | G/A | — | uncertain significance |
| rs779949026 | 11:281,565 | G/A | — | uncertain significance |
| rs199475808 | 11:281,612 | C/T | — | not provided |
| rs199475809 | 11:281,674 | A/G | — | not provided |
| rs148388963 | 11:281,692 | G/C | — | likely benign |
| rs1845482604 | 11:281,734 | C/T | — | uncertain significance |
| rs199475810 | 11:281,812 | G/A | — | not provided |
| rs199475811 | 11:281,978 | C/T | — | not provided |
| rs199475812 | 11:282,019 | A/C | — | not provided |
| rs199475813 | 11:282,201 | T/C | — | not provided |
| rs749387604 | 11:282,746 | A/G | — | likely benign |
| rs199475814 | 11:282,832 | C/T | — | not provided |
| rs775999356 | 11:284,243 | A/G | — | uncertain significance |
| rs142922223 | 11:284,255 | G/A | — | uncertain significance |
| rs143829732 | 11:284,256 | C/T | — | likely benign |
| rs142821825 | 11:284,297 | G/A | — | uncertain significance |
| rs547586414 | 11:284,298 | C/T | — | uncertain significance |
| rs369355458 | 11:284,304 | C/T | — | uncertain significance |
| rs774683376 | 11:284,313 | G/A | — | uncertain significance |
| rs200341428 | 11:284,348 | C/T | — | uncertain significance |
| rs534390821 | 11:284,376 | C/T | — | uncertain significance |
| rs148157663 | 11:284,377 | G/A | — | benign |
| rs199475815 | 11:284,438 | G/A | — | not provided |
| rs376822405 | 11:284,488 | G/A | — | uncertain significance |
| rs200526821 | 11:284,498 | G/A | — | likely benign |
| rs138570601 | 11:284,503 | C/T | — | uncertain significance |
| rs766311431 | 11:284,535 | C/A | — | uncertain significance |
| rs752920364 | 11:284,536 | C/T | — | uncertain significance |
| rs763317575 | 11:284,537 | C/T | — | uncertain significance |
| rs751728229 | 11:284,539 | G/A | — | uncertain significance |
| rs149974030 | 11:284,578 | G/A | — | uncertain significance |
| rs199625959 | 11:284,606 | T/A | — | uncertain significance |
| rs1845531969 | 11:284,621 | G/A | — | uncertain significance |
| rs117664979 | 11:284,626 | G/A | — | likely benign |
| rs2539128654 | 11:284,639 | T/C | — | uncertain significance |
| rs199475816 | 11:285,079 | G/A | — | not provided |
| rs146114422 | 11:285,096 | G/A | upstream gene variant | — |
| rs199475817 | 11:285,130 | C/A | — | not provided |
| rs377394769 | 11:285,203 | G/A | — | uncertain significance |
| rs1231023643 | 11:285,206 | C/A | — | uncertain significance |
| rs368022079 | 11:285,260 | G/C | — | uncertain significance |
| rs199475818 | 11:285,287 | C/G | — | not provided |
| rs141313584 | 11:285,291 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.