RHBDD2
rhomboid domain containing 2
Summary
The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1317735868 | 7:75,508,407 | G/A | — | uncertain significance |
| rs1554541930 | 7:75,508,416 | C/T | — | uncertain significance |
| rs376134938 | 7:75,508,436 | C/G | — | uncertain significance |
| rs1805159638 | 7:75,508,449 | G/A | — | uncertain significance |
| rs1345653826 | 7:75,508,464 | T/A | — | uncertain significance |
| rs782153688 | 7:75,511,216 | T/C | — | uncertain significance |
| rs199992690 | 7:75,511,221 | C/T | — | uncertain significance |
| rs11547498 | 7:75,511,222 | G/A | — | uncertain significance |
| rs2485733182 | 7:75,511,329 | T/C | — | uncertain significance |
| rs2485733899 | 7:75,511,413 | C/A | — | uncertain significance |
| rs782392840 | 7:75,511,510 | C/T | — | uncertain significance |
| rs186519564 | 7:75,511,919 | A/G | intron variant | — |
| rs143674520 | 7:75,512,377 | C/T | intron variant | — |
| rs368476168 | 7:75,513,042 | G/A | — | uncertain significance |
| rs1293797780 | 7:75,513,061 | C/T | — | uncertain significance |
| rs1385832890 | 7:75,513,068 | G/T | — | uncertain significance |
| rs368597929 | 7:75,513,083 | C/G | — | uncertain significance |
| rs781811469 | 7:75,513,154 | C/T | — | uncertain significance |
| rs185115743 | 7:75,513,873 | G/T | intron variant | — |
| rs369909326 | 7:75,517,330 | C/T | — | uncertain significance |
| rs2485769226 | 7:75,517,392 | C/G | — | uncertain significance |
| rs782042422 | 7:75,517,444 | T/C | — | uncertain significance |
| rs781987815 | 7:75,517,509 | A/G | — | uncertain significance |
| rs2485771240 | 7:75,517,531 | A/C | — | uncertain significance |
| rs148559308 | 7:75,517,543 | C/T | — | uncertain significance |
| rs372147983 | 7:75,517,580 | G/A | — | likely benign |
| rs782568366 | 7:75,517,582 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.