RHBDF1
rhomboid 5 homolog 1
Summary
Predicted to enable growth factor binding activity and serine-type endopeptidase activity. Involved in several processes, including negative regulation of protein secretion; regulation of epidermal growth factor receptor signaling pathway; and regulation of proteasomal protein catabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1028309211 | 16:108,425 | G/A | — | uncertain significance |
| rs199806322 | 16:108,438 | G/C | stop gained | — |
| rs1797789691 | 16:108,454 | A/G | — | uncertain significance |
| rs759973395 | 16:108,512 | G/A | — | uncertain significance |
| rs146954411 | 16:108,525 | C/G | — | uncertain significance |
| rs148360562 | 16:108,641 | G/T | — | likely benign |
| rs1567111336 | 16:108,734 | C/G | — | uncertain significance |
| rs745777268 | 16:109,013 | C/T | — | uncertain significance |
| rs138205309 | 16:109,048 | C/T | — | uncertain significance |
| rs116064244 | 16:109,288 | G/A | — | benign |
| rs972294017 | 16:109,311 | A/G | — | uncertain significance |
| rs778357157 | 16:109,475 | C/T | — | uncertain significance |
| rs747527300 | 16:109,476 | G/A | — | uncertain significance |
| rs373815100 | 16:109,757 | C/T | — | uncertain significance |
| rs149163157 | 16:109,774 | G/A | — | likely benign |
| rs761217453 | 16:110,234 | C/G | — | uncertain significance |
| rs2542709651 | 16:110,236 | G/A | — | uncertain significance |
| rs1326542110 | 16:110,263 | G/A | — | uncertain significance |
| rs780823768 | 16:110,467 | T/C | — | uncertain significance |
| rs201706583 | 16:110,482 | G/A | — | uncertain significance |
| rs770881246 | 16:110,501 | G/A | — | uncertain significance |
| rs2542710937 | 16:110,509 | G/A | — | uncertain significance |
| rs1231239788 | 16:111,126 | C/G | — | uncertain significance |
| rs1294826005 | 16:111,128 | T/C | — | uncertain significance |
| rs547200946 | 16:111,157 | G/C | — | uncertain significance |
| rs929563710 | 16:111,182 | T/C | — | uncertain significance |
| rs140406683 | 16:111,195 | C/G | — | uncertain significance |
| rs760441920 | 16:111,394 | C/T | — | uncertain significance |
| rs765963791 | 16:111,395 | G/C | — | uncertain significance |
| rs1897619066 | 16:111,447 | T/G | — | uncertain significance |
| rs2542718995 | 16:111,827 | T/C | — | uncertain significance |
| rs2542719379 | 16:111,896 | G/A | — | uncertain significance |
| rs77201493 | 16:111,954 | C/T | — | benign |
| rs2542719985 | 16:111,988 | C/T | — | uncertain significance |
| rs150122375 | 16:112,567 | G/A | — | uncertain significance |
| rs138932606 | 16:112,774 | C/T | — | uncertain significance |
| rs139734214 | 16:112,852 | C/G | — | uncertain significance |
| rs879417615 | 16:112,855 | C/T | — | uncertain significance |
| rs755574409 | 16:112,864 | C/G | — | uncertain significance |
| rs184104773 | 16:112,867 | C/T | — | benign |
| rs368764349 | 16:112,868 | G/A | — | uncertain significance |
| rs761973824 | 16:112,886 | C/T | — | uncertain significance |
| rs142110444 | 16:112,891 | C/T | — | uncertain significance |
| rs576115622 | 16:112,981 | G/A | — | uncertain significance |
| rs746845357 | 16:112,990 | G/A | — | uncertain significance |
| rs752349200 | 16:112,993 | C/T | — | uncertain significance |
| rs757984542 | 16:113,020 | C/A | — | uncertain significance |
| rs141410886 | 16:113,047 | A/T | — | uncertain significance |
| rs767258812 | 16:113,057 | G/A | — | uncertain significance |
| rs375530939 | 16:113,095 | G/A | — | uncertain significance |
| rs924929547 | 16:113,099 | C/T | — | uncertain significance |
| rs2542726090 | 16:113,107 | T/C | — | uncertain significance |
| rs571666338 | 16:113,128 | G/A | — | uncertain significance |
| rs560361777 | 16:113,132 | T/C | — | uncertain significance |
| rs987374376 | 16:113,635 | C/T | — | uncertain significance |
| rs114597905 | 16:113,648 | C/T | — | benign |
| rs1224362040 | 16:113,655 | T/C | — | uncertain significance |
| rs532538588 | 16:113,667 | G/A | — | uncertain significance |
| rs774545149 | 16:113,686 | G/T | — | likely benign |
| rs754407394 | 16:113,713 | G/A | — | uncertain significance |
| rs769523103 | 16:113,740 | G/A | — | uncertain significance |
| rs1357901502 | 16:113,764 | T/C | — | uncertain significance |
| rs147395123 | 16:114,701 | G/A | — | uncertain significance |
| rs1245477639 | 16:114,723 | C/A | — | uncertain significance |
| rs138142025 | 16:114,727 | C/T | — | uncertain significance |
| rs74352014 | 16:114,738 | C/T | — | benign |
| rs752626909 | 16:114,739 | G/A | — | uncertain significance |
| rs757169652 | 16:114,745 | C/T | — | uncertain significance |
| rs755070184 | 16:114,749 | G/C | — | uncertain significance |
| rs2542735548 | 16:114,765 | A/C | — | likely benign |
| rs147906988 | 16:114,773 | G/A | — | benign |
| rs201914697 | 16:114,817 | C/T | — | uncertain significance |
| rs149654816 | 16:114,824 | G/A | — | benign |
| rs2542736242 | 16:114,911 | G/A | — | uncertain significance |
| rs777846516 | 16:114,946 | T/G | — | uncertain significance |
| rs999812302 | 16:114,967 | T/G | — | uncertain significance |
| rs369963935 | 16:114,974 | G/A | — | uncertain significance |
| rs373464227 | 16:114,987 | C/T | — | likely benign |
| rs376110986 | 16:115,000 | C/T | — | uncertain significance |
| rs1366553 | 16:115,185 | C/T | intron variant | — |
| rs77546475 | 16:115,507 | G/A | regulatory region variant | — |
| rs2562152 | 16:123,896 | A/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.