RNF123
ring finger protein 123
Summary
The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Known Variants102 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs544012421 | 3:49,728,614 | G/A | — | uncertain significance |
| rs753973457 | 3:49,728,632 | C/T | — | uncertain significance |
| rs200056189 | 3:49,728,633 | G/C | — | uncertain significance |
| rs1553684893 | 3:49,728,638 | A/T | — | uncertain significance |
| rs1201442725 | 3:49,728,666 | A/G | — | uncertain significance |
| rs9852529 | 3:49,730,625 | G/A | upstream gene variant | — |
| rs9858213 | 3:49,731,861 | G/T | upstream gene variant | — |
| rs142656174 | 3:49,734,121 | G/A | intron variant | — |
| rs747814056 | 3:49,734,580 | C/T | — | uncertain significance |
| rs760903631 | 3:49,734,643 | G/A | — | uncertain significance |
| rs538967921 | 3:49,735,557 | G/A | — | uncertain significance |
| rs1283626541 | 3:49,736,209 | G/A | — | uncertain significance |
| rs1242647419 | 3:49,736,508 | T/C | — | uncertain significance |
| rs767762755 | 3:49,736,529 | G/A | — | uncertain significance |
| rs142524923 | 3:49,736,920 | C/T | — | uncertain significance |
| rs766267443 | 3:49,736,959 | G/A | — | uncertain significance |
| rs770997519 | 3:49,737,108 | G/A | — | uncertain significance |
| rs146592630 | 3:49,737,114 | T/C | — | uncertain significance |
| rs201194748 | 3:49,737,691 | T/C | — | uncertain significance |
| rs749686812 | 3:49,737,711 | G/A | — | uncertain significance |
| rs138311957 | 3:49,737,744 | G/A | — | uncertain significance |
| rs757826711 | 3:49,738,082 | G/C | — | uncertain significance |
| rs751197695 | 3:49,738,141 | C/G | — | uncertain significance |
| rs759024260 | 3:49,738,944 | T/C | — | uncertain significance |
| rs751933046 | 3:49,738,946 | G/A | — | uncertain significance |
| rs139814207 | 3:49,738,949 | T/G | — | uncertain significance |
| rs2544709364 | 3:49,739,033 | A/G | — | uncertain significance |
| rs373786285 | 3:49,739,037 | G/A | — | uncertain significance |
| rs1243234654 | 3:49,739,244 | G/A | — | uncertain significance |
| rs201473991 | 3:49,739,257 | C/T | — | uncertain significance |
| rs200279168 | 3:49,739,277 | G/A | — | uncertain significance |
| rs200586465 | 3:49,739,286 | C/T | — | uncertain significance |
| rs535187270 | 3:49,739,287 | G/T | — | uncertain significance |
| rs778920897 | 3:49,739,295 | C/T | — | uncertain significance |
| rs1342578582 | 3:49,739,299 | G/A | — | uncertain significance |
| rs1228561190 | 3:49,739,305 | A/G | — | uncertain significance |
| rs769404265 | 3:49,739,334 | C/T | — | uncertain significance |
| rs1382647914 | 3:49,739,807 | A/G | — | uncertain significance |
| rs200239238 | 3:49,739,833 | C/T | — | uncertain significance |
| rs748756783 | 3:49,739,834 | G/A | — | uncertain significance |
| rs752457227 | 3:49,740,072 | C/T | — | uncertain significance |
| rs61745258 | 3:49,740,104 | C/T | — | benign |
| rs146532174 | 3:49,740,132 | C/T | — | uncertain significance |
| rs1034941768 | 3:49,740,919 | C/T | — | uncertain significance |
| rs755195937 | 3:49,740,920 | G/A | — | uncertain significance |
| rs1414105978 | 3:49,740,925 | G/A | — | uncertain significance |
| rs202035016 | 3:49,740,931 | C/T | — | uncertain significance |
| rs150738623 | 3:49,740,946 | C/T | — | uncertain significance |
| rs771578425 | 3:49,740,947 | G/A | — | uncertain significance |
| rs772515271 | 3:49,742,418 | G/A | — | uncertain significance |
| rs2054486179 | 3:49,742,460 | C/G | — | uncertain significance |
| rs372415898 | 3:49,742,463 | G/A | — | uncertain significance |
| rs767395078 | 3:49,742,473 | G/C | — | uncertain significance |
| rs373109530 | 3:49,742,505 | G/A | — | uncertain significance |
| rs777796703 | 3:49,742,546 | C/T | — | uncertain significance |
| rs370368339 | 3:49,742,549 | C/T | — | uncertain significance |
| rs373099985 | 3:49,742,580 | G/A | — | uncertain significance |
| rs151252055 | 3:49,742,583 | C/T | — | uncertain significance |
| rs199576148 | 3:49,743,014 | G/A | — | uncertain significance |
| rs2544717397 | 3:49,743,033 | T/G | — | uncertain significance |
| rs2054500915 | 3:49,743,055 | A/T | — | uncertain significance |
| rs1300439911 | 3:49,743,471 | G/C | — | uncertain significance |
| rs376679342 | 3:49,743,482 | G/A | — | uncertain significance |
| rs2054528834 | 3:49,744,252 | A/G | — | uncertain significance |
| rs554235983 | 3:49,744,297 | G/A | — | uncertain significance |
| rs112017743 | 3:49,746,570 | T/C | intron variant | — |
| rs13061156 | 3:49,747,560 | C/T | intron variant | — |
| rs533776359 | 3:49,748,693 | G/A | — | — |
| rs370209625 | 3:49,749,916 | A/G | — | uncertain significance |
| rs2544726688 | 3:49,749,918 | A/T | — | uncertain significance |
| rs201733026 | 3:49,749,942 | C/T | — | uncertain significance |
| rs548992767 | 3:49,749,975 | C/G | — | uncertain significance |
| rs61760878 | 3:49,750,967 | G/A | — | uncertain significance |
| rs137904674 | 3:49,751,177 | G/A | — | uncertain significance |
| rs770735306 | 3:49,751,203 | A/G | — | uncertain significance |
| rs202083771 | 3:49,751,216 | A/T | — | uncertain significance |
| rs763125292 | 3:49,751,243 | G/A | — | uncertain significance |
| rs368723431 | 3:49,751,350 | G/A | — | uncertain significance |
| rs1678133158 | 3:49,751,378 | A/G | — | uncertain significance |
| rs757952556 | 3:49,751,387 | G/A | — | uncertain significance |
| rs776678354 | 3:49,751,551 | G/A | — | uncertain significance |
| rs34614773 | 3:49,753,003 | T/C | splice region variant | — |
| rs199987645 | 3:49,753,044 | C/T | — | uncertain significance |
| rs199902925 | 3:49,753,094 | G/A | — | uncertain significance |
| rs772027733 | 3:49,753,369 | A/G | — | uncertain significance |
| rs779775491 | 3:49,753,375 | C/G | — | uncertain significance |
| rs776413537 | 3:49,753,387 | A/G | — | uncertain significance |
| rs1178537503 | 3:49,753,550 | C/G | — | uncertain significance |
| rs369412191 | 3:49,753,601 | C/T | — | uncertain significance |
| rs1326129409 | 3:49,753,862 | C/A | — | uncertain significance |
| rs962191852 | 3:49,753,877 | T/C | — | uncertain significance |
| rs749935944 | 3:49,753,895 | G/A | — | likely benign |
| rs61743872 | 3:49,753,901 | C/T | — | uncertain significance |
| rs372750601 | 3:49,757,993 | C/T | — | uncertain significance |
| rs74959466 | 3:49,758,039 | G/C | — | benign |
| rs754168663 | 3:49,758,069 | G/A | — | uncertain significance |
| rs373043136 | 3:49,758,268 | G/C | — | uncertain significance |
| rs1231352732 | 3:49,758,284 | C/G | — | uncertain significance |
| rs376007228 | 3:49,758,288 | C/A | — | uncertain significance |
| rs769176209 | 3:49,758,293 | C/T | — | uncertain significance |
Showing 100 of 102 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.