NLRP11
NLR family pyrin domain containing 11
Summary
This gene is a member of the the NOD-like receptor protein (NLRP) gene family and encodes a protein with an N-terminal pyrin death (PYD) domain and nucleoside triphosphate hydrolase (NACHT) domain and a C-terminal leucine-rich repeats (LRR) region. This gene has been shown to regulate caspases in the proinflammatory signal transduction pathway and, based on studies of other members of the NLRP gene family with similar domain structure, is predicted to form part of the multiprotein inflammasome complex. Alternative splicing produces multiple transcript variants encoding distince isoforms. [provided by RefSeq, May 2017]
Known Variants84 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199475863 | 19:56,296,906 | T/C | — | not provided |
| rs11671248 | 19:56,297,019 | G/A | — | benign |
| rs193180010 | 19:56,297,022 | G/A | — | likely benign |
| rs775377221 | 19:56,297,027 | C/G | — | uncertain significance |
| rs144909019 | 19:56,297,083 | G/A | — | uncertain significance |
| rs1989836507 | 19:56,297,089 | T/C | — | likely benign |
| rs116820715 | 19:56,297,164 | G/T | — | benign |
| rs748337702 | 19:56,297,187 | A/G | — | uncertain significance |
| rs562593953 | 19:56,300,195 | C/T | — | uncertain significance |
| rs1990060869 | 19:56,300,198 | G/A | — | uncertain significance |
| rs369525923 | 19:56,300,230 | C/G | — | uncertain significance |
| rs760349959 | 19:56,300,245 | T/C | — | uncertain significance |
| rs199475862 | 19:56,300,284 | G/A | — | not provided |
| rs1282819393 | 19:56,300,305 | G/T | — | uncertain significance |
| rs73616926 | 19:56,300,308 | C/A | — | uncertain significance |
| rs746693809 | 19:56,300,330 | T/G | — | uncertain significance |
| rs148312368 | 19:56,300,673 | C/T | — | uncertain significance |
| rs199475861 | 19:56,303,726 | G/A | — | not provided |
| rs1025272758 | 19:56,303,730 | T/A | — | uncertain significance |
| rs762929478 | 19:56,303,776 | T/A | — | uncertain significance |
| rs200978866 | 19:56,303,789 | T/A | — | uncertain significance |
| rs80143194 | 19:56,303,806 | A/C | — | benign |
| rs199476240 | 19:56,303,869 | T/C | — | not provided |
| rs368466673 | 19:56,307,455 | A/G | — | likely benign |
| rs2514081998 | 19:56,307,459 | G/T | — | uncertain significance |
| rs145113558 | 19:56,307,477 | G/T | — | uncertain significance |
| rs773792806 | 19:56,307,501 | T/A | — | uncertain significance |
| rs1239421382 | 19:56,307,510 | T/C | — | uncertain significance |
| rs142981826 | 19:56,307,552 | C/T | — | uncertain significance |
| rs764878378 | 19:56,307,596 | C/T | — | uncertain significance |
| rs1334057566 | 19:56,307,603 | C/G | — | uncertain significance |
| rs777872929 | 19:56,307,613 | C/A | — | uncertain significance |
| rs191672205 | 19:56,312,966 | C/T | — | likely benign |
| rs1045148215 | 19:56,312,980 | T/C | — | likely benign |
| rs200349091 | 19:56,313,049 | C/T | — | uncertain significance |
| rs299175 | 19:56,313,528 | G/A | intron variant | — |
| rs561424521 | 19:56,319,228 | C/T | — | uncertain significance |
| rs751891218 | 19:56,319,269 | C/A | — | uncertain significance |
| rs771617298 | 19:56,319,271 | T/C | — | uncertain significance |
| rs754456762 | 19:56,319,302 | G/C | — | uncertain significance |
| rs373403921 | 19:56,319,316 | G/A | — | likely benign |
| rs199476239 | 19:56,319,386 | T/C | — | not provided |
| rs199476238 | 19:56,319,508 | A/G | — | not provided |
| rs199476237 | 19:56,319,529 | G/A | — | not provided |
| rs199476236 | 19:56,319,879 | T/C | — | not provided |
| rs199476235 | 19:56,320,062 | T/C | — | not provided |
| rs368580628 | 19:56,320,210 | C/T | — | uncertain significance |
| rs756355864 | 19:56,320,234 | G/A | — | uncertain significance |
| rs1373437786 | 19:56,320,242 | C/G | — | uncertain significance |
| rs765438265 | 19:56,320,402 | G/A | — | uncertain significance |
| rs752852279 | 19:56,320,409 | A/G | — | likely benign |
| rs747752125 | 19:56,320,465 | C/T | — | uncertain significance |
| rs1185005893 | 19:56,320,531 | C/T | — | uncertain significance |
| rs746493018 | 19:56,320,594 | G/A | — | uncertain significance |
| rs140090548 | 19:56,320,629 | T/G | — | likely benign |
| rs12461110 | 19:56,320,663 | G/A | missense variant | — |
| rs749033575 | 19:56,320,723 | C/G | — | uncertain significance |
| rs974162965 | 19:56,320,804 | A/C | — | uncertain significance |
| rs2514141252 | 19:56,320,953 | T/A | — | uncertain significance |
| rs2514141671 | 19:56,320,983 | T/C | — | uncertain significance |
| rs936353869 | 19:56,321,135 | G/C | — | uncertain significance |
| rs772516562 | 19:56,321,351 | C/T | — | uncertain significance |
| rs139853922 | 19:56,321,359 | T/A | — | uncertain significance |
| rs368342871 | 19:56,321,374 | T/C | — | uncertain significance |
| rs1311168311 | 19:56,321,379 | C/A | — | uncertain significance |
| rs1980443639 | 19:56,321,385 | G/T | — | uncertain significance |
| rs146866364 | 19:56,321,409 | G/T | — | uncertain significance |
| rs747330989 | 19:56,321,420 | G/A | — | uncertain significance |
| rs1326644443 | 19:56,321,441 | T/C | — | uncertain significance |
| rs146544608 | 19:56,321,456 | C/T | — | uncertain significance |
| rs138370524 | 19:56,321,606 | C/T | — | uncertain significance |
| rs199476234 | 19:56,329,217 | G/C | — | not provided |
| rs915207502 | 19:56,329,289 | C/G | — | uncertain significance |
| rs766975249 | 19:56,329,305 | T/C | — | uncertain significance |
| rs756060414 | 19:56,329,311 | C/T | — | uncertain significance |
| rs945392173 | 19:56,329,312 | G/A | — | uncertain significance |
| rs779773007 | 19:56,329,318 | T/C | — | uncertain significance |
| rs199475860 | 19:56,329,391 | T/C | — | not provided |
| rs774024434 | 19:56,329,407 | A/G | — | uncertain significance |
| rs889359688 | 19:56,329,438 | G/T | — | uncertain significance |
| rs199475859 | 19:56,343,219 | A/G | — | not provided |
| rs199475858 | 19:56,343,467 | G/A | — | not provided |
| rs199475857 | 19:56,344,331 | T/C | — | not provided |
| rs199475739 | 19:56,347,822 | C/T | — | not provided |
Gene information from NCBI Gene. Variant classifications from ClinVar.