OSMR
oncostatin M receptor
Summary
This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleukin 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Known Variants98 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2292016 | 5:38,845,860 | G/T | coding sequence variant | — |
| rs2546434018 | 5:38,869,150 | G/T | — | uncertain significance |
| rs2546434172 | 5:38,869,174 | A/G | — | uncertain significance |
| rs375155 | 5:38,873,618 | C/T | intron variant | — |
| rs139829527 | 5:38,875,167 | G/A | regulatory region variant | — |
| rs1742814301 | 5:38,876,308 | G/A | — | uncertain significance |
| rs200962324 | 5:38,876,314 | C/T | — | uncertain significance |
| rs143729286 | 5:38,876,315 | G/A | — | uncertain significance |
| rs16867807 | 5:38,876,361 | G/A | — | benign |
| rs147223683 | 5:38,876,363 | G/A | — | likely benign |
| rs767030320 | 5:38,876,389 | G/A | — | uncertain significance |
| rs149778657 | 5:38,881,840 | A/G | — | uncertain significance |
| rs1453212661 | 5:38,883,925 | G/T | — | likely benign |
| rs144730194 | 5:38,883,961 | G/A | — | likely benign |
| rs747403471 | 5:38,883,971 | A/C | — | uncertain significance |
| rs773912315 | 5:38,884,004 | C/T | — | uncertain significance |
| rs767298581 | 5:38,884,010 | G/T | — | uncertain significance |
| rs35207712 | 5:38,884,015 | G/A | — | likely benign |
| rs1207409657 | 5:38,884,021 | A/G | — | uncertain significance |
| rs34675408 | 5:38,884,071 | T/G | missense variant | benign |
| rs114792297 | 5:38,884,114 | A/T | — | benign |
| rs146887040 | 5:38,884,151 | A/G | missense variant | — |
| rs150099042 | 5:38,884,192 | G/C | — | uncertain significance |
| rs886072456 | 5:38,884,199 | T/C | — | uncertain significance |
| rs780414796 | 5:38,885,451 | A/C | — | uncertain significance |
| rs769693408 | 5:38,885,502 | C/G | — | uncertain significance |
| rs181303223 | 5:38,886,204 | C/T | — | benign |
| rs766005194 | 5:38,886,272 | T/G | — | uncertain significance |
| rs142927792 | 5:38,886,332 | G/A | — | likely benign |
| rs757271777 | 5:38,903,992 | A/T | — | uncertain significance |
| rs2112540467 | 5:38,904,038 | C/A | — | uncertain significance |
| rs35117676 | 5:38,904,082 | T/C | — | benign |
| rs35727755 | 5:38,904,482 | G/A | — | benign |
| rs2546535616 | 5:38,904,507 | C/G | — | uncertain significance |
| rs748866883 | 5:38,904,521 | A/G | — | uncertain significance |
| rs1222820413 | 5:38,904,524 | G/C | — | uncertain significance |
| rs141408981 | 5:38,904,533 | C/T | — | uncertain significance |
| rs150813221 | 5:38,904,534 | G/T | — | uncertain significance |
| rs2546535772 | 5:38,904,552 | A/G | — | uncertain significance |
| rs957059186 | 5:38,917,645 | C/T | — | uncertain significance |
| rs34324145 | 5:38,917,669 | T/A | — | conflicting classifications of pathogenicity |
| rs1280299010 | 5:38,918,988 | T/C | — | uncertain significance |
| rs2546567614 | 5:38,919,073 | C/T | — | likely benign |
| rs367714483 | 5:38,919,094 | C/T | — | likely benign |
| rs147042111 | 5:38,919,095 | G/A | — | conflicting classifications of pathogenicity |
| rs186633949 | 5:38,919,103 | C/T | — | likely benign |
| rs934225340 | 5:38,919,104 | A/G | — | uncertain significance |
| rs202145435 | 5:38,919,117 | G/A | — | conflicting classifications of pathogenicity |
| rs2546567837 | 5:38,919,126 | C/G | — | uncertain significance |
| rs143847892 | 5:38,919,150 | C/G | — | likely benign |
| rs10941412 | 5:38,919,158 | A/G | — | benign |
| rs199625970 | 5:38,919,159 | A/C | — | uncertain significance |
| rs142334998 | 5:38,919,319 | G/T | — | benign |
| rs201975697 | 5:38,921,722 | G/A | — | conflicting classifications of pathogenicity |
| rs772676681 | 5:38,921,759 | T/G | — | uncertain significance |
| rs2278329 | 5:38,921,788 | G/A | missense variant | — |
| rs756379833 | 5:38,921,838 | C/T | — | likely benign |
| rs780239020 | 5:38,921,839 | G/A | — | uncertain significance |
| rs1579800027 | 5:38,923,271 | T/C | — | likely benign |
| rs199844167 | 5:38,923,272 | C/T | — | uncertain significance |
| rs63750560 | 5:38,923,339 | G/C | missense variant | pathogenic |
| rs146032550 | 5:38,924,525 | T/C | — | benign |
| rs113413897 | 5:38,924,534 | C/A | — | conflicting classifications of pathogenicity |
| rs377012343 | 5:38,924,544 | G/A | — | uncertain significance |
| rs1746379537 | 5:38,924,577 | A/G | — | uncertain significance |
| rs1054055743 | 5:38,924,580 | C/G | — | uncertain significance |
| rs387906821 | 5:38,924,593 | A/T | missense variant | pathogenic |
| rs776611702 | 5:38,924,673 | C/T | — | uncertain significance |
| rs1746419172 | 5:38,925,332 | A/C | — | uncertain significance |
| rs63750567 | 5:38,925,333 | T/C | missense variant | pathogenic |
| rs387906822 | 5:38,925,342 | C/T | missense variant | pathogenic |
| rs387906823 | 5:38,925,351 | A/C | missense variant | pathogenic |
| rs1746425740 | 5:38,925,403 | C/G | — | uncertain significance |
| rs146348743 | 5:38,925,405 | C/G | — | uncertain significance |
| rs2289926 | 5:38,925,457 | G/A | — | benign |
| rs199888879 | 5:38,925,462 | C/T | — | uncertain significance |
| rs181276130 | 5:38,928,341 | C/T | intron variant | — |
| rs1325644430 | 5:38,932,022 | C/G | — | likely benign |
| rs142019699 | 5:38,932,574 | G/A | — | likely benign |
| rs1746798771 | 5:38,932,599 | C/T | — | uncertain significance |
| rs35739767 | 5:38,933,005 | G/C | — | likely benign |
| rs375673847 | 5:38,933,026 | T/C | — | uncertain significance |
| rs1392859866 | 5:38,933,121 | T/A | — | uncertain significance |
| rs771864692 | 5:38,933,144 | T/A | — | conflicting classifications of pathogenicity |
| rs759738035 | 5:38,933,175 | G/A | — | uncertain significance |
| rs1579820098 | 5:38,933,202 | T/G | — | uncertain significance |
| rs1271128398 | 5:38,933,221 | G/A | — | uncertain significance |
| rs140314925 | 5:38,933,253 | A/G | — | likely benign |
| rs763165102 | 5:38,933,356 | A/G | — | uncertain significance |
| rs558866079 | 5:38,933,359 | T/C | — | uncertain significance |
| rs144947628 | 5:38,933,389 | A/C | — | uncertain significance |
| rs142014556 | 5:38,933,455 | C/A | — | benign |
| rs775646269 | 5:38,933,457 | G/C | — | uncertain significance |
| rs190725368 | 5:38,933,483 | C/G | — | benign |
| rs141962878 | 5:38,933,485 | C/T | — | likely benign |
| rs764796970 | 5:38,933,486 | G/A | — | likely benign |
| rs752350312 | 5:38,933,488 | C/T | — | uncertain significance |
| rs757205954 | 5:38,933,517 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.