LIFR
LIF receptor subunit alpha
Summary
This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]
Known Variants914 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs566612340 | 5:38,475,133 | G/A | — | uncertain significance |
| rs2112328232 | 5:38,475,206 | T/C | — | uncertain significance |
| rs771210595 | 5:38,475,214 | G/T | — | uncertain significance |
| rs141407987 | 5:38,475,302 | A/G | — | conflicting classifications of pathogenicity |
| rs2112328487 | 5:38,475,311 | T/C | — | uncertain significance |
| rs963712767 | 5:38,475,317 | C/G | — | uncertain significance |
| rs115572283 | 5:38,475,381 | G/A | — | benign |
| rs560182899 | 5:38,475,449 | G/C | — | uncertain significance |
| rs1274222770 | 5:38,475,471 | T/C | — | uncertain significance |
| rs1046224 | 5:38,475,507 | A/G | — | benign |
| rs73077446 | 5:38,475,557 | G/C | — | benign |
| rs188682396 | 5:38,475,597 | C/T | — | uncertain significance |
| rs886060604 | 5:38,475,711 | A/G | — | uncertain significance |
| rs571064663 | 5:38,475,772 | G/T | — | uncertain significance |
| rs886060605 | 5:38,475,901 | T/G | — | uncertain significance |
| rs556240742 | 5:38,475,904 | G/C | — | uncertain significance |
| rs886060606 | 5:38,475,929 | T/G | — | uncertain significance |
| rs3822425 | 5:38,476,027 | T/C | — | benign |
| rs886060607 | 5:38,476,030 | A/G | — | uncertain significance |
| rs149932478 | 5:38,476,063 | A/G | — | benign |
| rs886060608 | 5:38,476,155 | C/T | — | uncertain significance |
| rs1393635624 | 5:38,476,276 | T/C | — | uncertain significance |
| rs7713531 | 5:38,476,341 | T/C | — | benign |
| rs58755763 | 5:38,476,472 | G/A | — | benign |
| rs1347465930 | 5:38,476,491 | T/C | — | uncertain significance |
| rs886060609 | 5:38,476,513 | C/T | — | uncertain significance |
| rs3822426 | 5:38,476,528 | A/T | — | benign |
| rs147202739 | 5:38,476,572 | G/A | — | likely benign |
| rs1035465616 | 5:38,476,590 | T/C | — | uncertain significance |
| rs183333459 | 5:38,476,637 | A/T | — | uncertain significance |
| rs886060610 | 5:38,476,680 | T/C | — | uncertain significance |
| rs758275090 | 5:38,476,693 | T/C | — | uncertain significance |
| rs35853268 | 5:38,476,843 | C/T | — | benign |
| rs1307069696 | 5:38,476,856 | C/T | — | uncertain significance |
| rs55917124 | 5:38,476,893 | G/A | — | benign |
| rs555849365 | 5:38,476,896 | T/C | — | uncertain significance |
| rs1392993911 | 5:38,476,898 | T/C | — | uncertain significance |
| rs201856141 | 5:38,476,962 | G/T | — | uncertain significance |
| rs576106981 | 5:38,477,079 | A/G | — | uncertain significance |
| rs886060613 | 5:38,477,259 | T/C | — | uncertain significance |
| rs10056657 | 5:38,477,269 | A/G | — | uncertain significance |
| rs886060614 | 5:38,477,280 | T/C | — | uncertain significance |
| rs542094343 | 5:38,477,283 | C/T | — | uncertain significance |
| rs191397058 | 5:38,477,292 | C/G | — | uncertain significance |
| rs184642499 | 5:38,477,351 | C/T | — | uncertain significance |
| rs886060615 | 5:38,477,433 | A/C | — | uncertain significance |
| rs73749255 | 5:38,477,454 | T/C | — | benign |
| rs73077448 | 5:38,477,543 | T/C | — | likely benign |
| rs73077449 | 5:38,477,641 | C/A | — | benign |
| rs140501581 | 5:38,477,673 | C/T | — | uncertain significance |
| rs968785250 | 5:38,477,677 | A/C | — | uncertain significance |
| rs1238336955 | 5:38,477,845 | G/C | — | uncertain significance |
| rs78474283 | 5:38,477,846 | A/T | — | likely benign |
| rs886060616 | 5:38,477,847 | A/C | — | uncertain significance |
| rs34130318 | 5:38,477,863 | G/C | — | benign |
| rs1432917321 | 5:38,477,944 | C/G | — | uncertain significance |
| rs144332222 | 5:38,477,949 | A/G | — | conflicting classifications of pathogenicity |
| rs1219109807 | 5:38,478,134 | A/G | — | uncertain significance |
| rs886467983 | 5:38,478,227 | C/A | — | uncertain significance |
| rs147793103 | 5:38,478,248 | C/A | — | uncertain significance |
| rs778888227 | 5:38,478,322 | T/C | — | uncertain significance |
| rs148827994 | 5:38,478,367 | G/T | — | benign |
| rs868197411 | 5:38,478,395 | A/G | — | uncertain significance |
| rs758192947 | 5:38,478,515 | C/T | — | uncertain significance |
| rs142495539 | 5:38,478,534 | A/G | — | uncertain significance |
| rs1743825125 | 5:38,478,535 | A/C | — | uncertain significance |
| rs552475268 | 5:38,478,612 | C/A | — | uncertain significance |
| rs2112340433 | 5:38,478,623 | T/C | — | uncertain significance |
| rs368109984 | 5:38,478,787 | C/T | — | uncertain significance |
| rs952292818 | 5:38,478,872 | C/T | — | uncertain significance |
| rs1290128552 | 5:38,478,951 | A/T | — | uncertain significance |
| rs547688841 | 5:38,478,985 | G/A | — | likely benign |
| rs886060617 | 5:38,479,000 | T/C | — | uncertain significance |
| rs905926604 | 5:38,479,086 | G/A | — | uncertain significance |
| rs1284035304 | 5:38,479,112 | A/T | — | uncertain significance |
| rs113730751 | 5:38,479,127 | C/G | — | likely benign |
| rs112458059 | 5:38,479,130 | C/T | — | likely benign |
| rs555848744 | 5:38,479,221 | C/A | — | uncertain significance |
| rs140583327 | 5:38,479,233 | G/C | — | uncertain significance |
| rs925267459 | 5:38,479,260 | T/C | — | uncertain significance |
| rs1461084870 | 5:38,479,337 | T/G | — | uncertain significance |
| rs551424232 | 5:38,479,655 | T/C | — | uncertain significance |
| rs1227741988 | 5:38,479,725 | G/A | — | uncertain significance |
| rs759458908 | 5:38,479,729 | T/G | — | uncertain significance |
| rs558503590 | 5:38,479,745 | T/C | — | uncertain significance |
| rs60287085 | 5:38,479,827 | C/T | — | benign |
| rs748353397 | 5:38,479,837 | A/C | — | uncertain significance |
| rs772252918 | 5:38,479,838 | T/G | — | uncertain significance |
| rs886060618 | 5:38,479,842 | T/A | — | uncertain significance |
| rs886060619 | 5:38,479,843 | G/A | — | uncertain significance |
| rs190209875 | 5:38,479,857 | G/C | — | benign |
| rs533737306 | 5:38,479,918 | T/C | — | uncertain significance |
| rs1009323722 | 5:38,480,054 | C/T | — | uncertain significance |
| rs2731964 | 5:38,480,087 | A/C | — | benign |
| rs1428604 | 5:38,480,143 | G/C | — | benign |
| rs547319835 | 5:38,480,157 | T/C | — | uncertain significance |
| rs75368466 | 5:38,480,213 | T/C | — | benign |
| rs567565130 | 5:38,480,223 | A/C | — | conflicting classifications of pathogenicity |
| rs13156520 | 5:38,480,227 | A/C | — | benign |
| rs886060620 | 5:38,480,229 | A/C | — | uncertain significance |
Showing 100 of 914 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.