NLRP4
NLR family pyrin domain containing 4
Summary
The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene product has a demonstrated role as a negative regulator of autophagy and type I interferon signaling pathways as a result of protein interactions with its NACHT domain. The PYD domain has also been shown to be important in the inhibition of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells). [provided by RefSeq, Dec 2016]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199475741 | 19:56,348,091 | T/G | — | not provided |
| rs199475742 | 19:56,348,191 | G/A | — | not provided |
| rs199475743 | 19:56,348,306 | G/T | — | not provided |
| rs199475744 | 19:56,348,307 | G/T | — | not provided |
| rs2514266779 | 19:56,363,457 | C/G | — | uncertain significance |
| rs759611908 | 19:56,363,515 | C/G | — | uncertain significance |
| rs2514266867 | 19:56,363,516 | A/G | — | uncertain significance |
| rs752623697 | 19:56,363,532 | A/T | — | likely benign |
| rs2514266970 | 19:56,363,576 | T/C | — | uncertain significance |
| rs1568660536 | 19:56,363,577 | G/T | — | uncertain significance |
| rs200695811 | 19:56,363,583 | A/T | — | uncertain significance |
| rs146554712 | 19:56,363,625 | T/A | — | uncertain significance |
| rs766410733 | 19:56,363,657 | A/G | — | likely benign |
| rs145740276 | 19:56,369,085 | G/A | — | conflicting classifications of pathogenicity |
| rs145268034 | 19:56,369,143 | G/T | — | uncertain significance |
| rs1451880343 | 19:56,369,181 | C/T | — | uncertain significance |
| rs773617976 | 19:56,369,204 | C/T | — | uncertain significance |
| rs2514274824 | 19:56,369,284 | C/G | — | uncertain significance |
| rs748727579 | 19:56,369,294 | C/T | — | uncertain significance |
| rs374017999 | 19:56,369,295 | G/A | — | likely benign |
| rs199475746 | 19:56,369,342 | G/C | — | not provided |
| rs144371613 | 19:56,369,405 | A/G | — | likely benign |
| rs1471057048 | 19:56,369,480 | A/C | — | uncertain significance |
| rs775533945 | 19:56,369,489 | G/A | — | uncertain significance |
| rs2514275369 | 19:56,369,502 | G/A | — | uncertain significance |
| rs142248221 | 19:56,369,507 | G/A | — | uncertain significance |
| rs140020888 | 19:56,369,513 | A/G | — | uncertain significance |
| rs2514275424 | 19:56,369,520 | A/C | — | uncertain significance |
| rs1026450805 | 19:56,369,545 | C/G | — | uncertain significance |
| rs147621156 | 19:56,369,571 | C/T | — | uncertain significance |
| rs773620204 | 19:56,369,634 | C/G | — | uncertain significance |
| rs147977916 | 19:56,369,657 | C/T | — | uncertain significance |
| rs201957755 | 19:56,369,673 | G/A | — | uncertain significance |
| rs369412544 | 19:56,369,692 | C/A | — | uncertain significance |
| rs375063091 | 19:56,369,746 | A/C | — | uncertain significance |
| rs369031971 | 19:56,369,750 | A/C | — | uncertain significance |
| rs111236233 | 19:56,369,796 | T/C | — | uncertain significance |
| rs955266159 | 19:56,369,802 | G/T | — | uncertain significance |
| rs774633792 | 19:56,369,816 | C/G | — | uncertain significance |
| rs985610268 | 19:56,369,822 | A/T | — | uncertain significance |
| rs765184975 | 19:56,369,857 | G/C | — | uncertain significance |
| rs373243158 | 19:56,369,884 | C/G | — | uncertain significance |
| rs763637648 | 19:56,369,919 | G/A | — | uncertain significance |
| rs140509890 | 19:56,370,017 | C/T | — | uncertain significance |
| rs779305650 | 19:56,370,020 | A/G | — | uncertain significance |
| rs111284755 | 19:56,370,038 | G/A | — | likely benign |
| rs140761924 | 19:56,370,116 | G/A | — | uncertain significance |
| rs371756213 | 19:56,370,248 | A/G | — | uncertain significance |
| rs757212604 | 19:56,370,387 | A/G | — | uncertain significance |
| rs201393247 | 19:56,370,508 | C/A | — | uncertain significance |
| rs773500922 | 19:56,370,578 | C/G | — | uncertain significance |
| rs770075245 | 19:56,370,600 | A/G | — | uncertain significance |
| rs199475747 | 19:56,370,665 | C/T | — | not provided |
| rs199475748 | 19:56,372,684 | G/A | — | not provided |
| rs781729250 | 19:56,372,756 | G/A | — | uncertain significance |
| rs370480485 | 19:56,372,763 | G/C | — | uncertain significance |
| rs146662745 | 19:56,372,871 | G/A | — | uncertain significance |
| rs766831042 | 19:56,372,897 | C/T | — | uncertain significance |
| rs368338379 | 19:56,372,898 | G/A | — | uncertain significance |
| rs199475749 | 19:56,373,143 | T/C | — | not provided |
| rs748163255 | 19:56,373,363 | A/C | — | uncertain significance |
| rs770640711 | 19:56,373,378 | C/T | — | uncertain significance |
| rs1426150497 | 19:56,373,455 | C/T | — | uncertain significance |
| rs199475750 | 19:56,373,482 | T/G | — | not provided |
| rs199475751 | 19:56,373,517 | A/G | — | not provided |
| rs1036106293 | 19:56,376,802 | G/T | — | — |
| rs199475752 | 19:56,379,019 | G/C | — | not provided |
| rs2514290234 | 19:56,379,141 | G/C | — | uncertain significance |
| rs1445370506 | 19:56,379,193 | C/T | — | uncertain significance |
| rs36071978 | 19:56,379,225 | G/A | — | benign |
| rs371196816 | 19:56,382,214 | C/G | — | uncertain significance |
| rs149497234 | 19:56,382,252 | G/A | — | likely benign |
| rs143466082 | 19:56,382,266 | C/T | — | uncertain significance |
| rs751908563 | 19:56,382,267 | G/A | — | uncertain significance |
| rs2514295040 | 19:56,382,287 | A/C | — | uncertain significance |
| rs1985156439 | 19:56,382,305 | G/A | — | uncertain significance |
| rs766923125 | 19:56,382,362 | T/G | — | uncertain significance |
| rs111526744 | 19:56,388,411 | G/A | — | benign |
| rs142659888 | 19:56,388,495 | G/T | — | uncertain significance |
| rs199475753 | 19:56,389,966 | C/G | — | not provided |
| rs199475754 | 19:56,389,991 | A/G | — | not provided |
| rs139521551 | 19:56,390,202 | C/G | — | likely benign |
| rs143710343 | 19:56,390,203 | G/T | — | uncertain significance |
| rs758997345 | 19:56,390,272 | G/A | — | uncertain significance |
| rs2514305557 | 19:56,390,315 | C/T | — | uncertain significance |
| rs1313348455 | 19:56,392,844 | A/C | — | uncertain significance |
| rs151127663 | 19:56,392,881 | G/A | — | likely benign |
| rs199475755 | 19:56,393,117 | T/A | — | not provided |
| rs199475756 | 19:56,393,236 | T/C | — | not provided |
Gene information from NCBI Gene. Variant classifications from ClinVar.