LNPK
lunapark, ER junction formation factor
Summary
Enables identical protein binding activity. Involved in endoplasmic reticulum tubular network maintenance and positive regulation of endoplasmic reticulum tubular network organization. Located in endoplasmic reticulum tubular network membrane and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs556834285 | 2:176,794,803 | T/C | — | likely benign |
| rs202012437 | 2:176,794,824 | T/C | — | uncertain significance |
| rs138584031 | 2:176,794,846 | A/C | — | likely benign |
| rs1349801010 | 2:176,794,872 | T/C | — | uncertain significance |
| rs1684599962 | 2:176,802,071 | C/G | — | pathogenic |
| rs201325808 | 2:176,802,120 | G/A | — | likely benign |
| rs2468510706 | 2:176,802,195 | T/C | — | uncertain significance |
| rs759257720 | 2:176,802,230 | G/A | — | uncertain significance |
| rs554332202 | 2:176,802,238 | A/G | — | likely benign |
| rs2468514378 | 2:176,803,069 | C/T | — | uncertain significance |
| rs2468519375 | 2:176,804,286 | T/C | — | uncertain significance |
| rs760073880 | 2:176,804,335 | G/A | — | uncertain significance |
| rs1391644554 | 2:176,804,341 | G/A | — | pathogenic |
| rs201848822 | 2:176,804,350 | T/C | — | conflicting classifications of pathogenicity |
| rs148493448 | 2:176,805,732 | T/C | — | benign |
| rs760528892 | 2:176,805,741 | C/T | — | likely benign |
| rs147224445 | 2:176,812,232 | G/A | — | uncertain significance |
| rs2105565483 | 2:176,812,410 | C/T | — | likely benign |
| rs749598231 | 2:176,829,115 | C/T | — | uncertain significance |
| rs34897061 | 2:176,829,117 | G/C | — | benign |
| rs759163033 | 2:176,829,126 | G/T | — | uncertain significance |
| rs147972945 | 2:176,829,141 | G/A | — | likely benign |
| rs143322779 | 2:176,829,147 | C/T | — | benign |
| rs775151539 | 2:176,829,282 | C/T | — | likely benign |
| rs373996507 | 2:176,829,309 | T/C | — | likely benign |
| rs2105629680 | 2:176,829,314 | C/A | — | likely pathogenic |
| rs187727157 | 2:176,839,605 | A/G | — | uncertain significance |
| rs750946983 | 2:176,844,603 | G/A | — | likely benign |
| rs542622551 | 2:176,857,152 | A/G | — | likely benign |
| rs141241763 | 2:176,857,156 | G/C | — | benign |
| rs375567653 | 2:176,860,330 | T/C | — | likely benign |
| rs77084246 | 2:176,860,337 | A/T | — | benign |
| rs745956591 | 2:176,866,914 | C/T | — | likely benign |
| rs73978133 | 2:176,869,004 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.