RHBDD1
rhomboid domain containing 1
Summary
Enables serine-type endopeptidase activity. Involved in several processes, including cellular response to unfolded protein; membrane protein proteolysis; and positive regulation of protein catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6725330 | 2:227,666,857 | A/G | upstream gene variant | — |
| rs200984958 | 2:227,729,416 | C/T | — | uncertain significance |
| rs764239115 | 2:227,729,431 | A/T | — | uncertain significance |
| rs751786446 | 2:227,729,435 | A/G | — | uncertain significance |
| rs147490611 | 2:227,729,482 | A/G | — | uncertain significance |
| rs1559208370 | 2:227,729,539 | A/T | — | uncertain significance |
| rs758115498 | 2:227,729,561 | G/A | — | uncertain significance |
| rs549333317 | 2:227,729,608 | C/T | — | uncertain significance |
| rs2469754369 | 2:227,729,635 | G/A | — | uncertain significance |
| rs139662037 | 2:227,731,962 | T/C | missense variant | — |
| rs370274083 | 2:227,731,980 | C/T | — | uncertain significance |
| rs1078683 | 2:227,733,130 | T/C | regulatory region variant | — |
| rs181140318 | 2:227,739,878 | G/C | intron variant | — |
| rs3820928 | 2:227,773,466 | T/C | intron variant | — |
| rs143313030 | 2:227,778,951 | C/T | — | uncertain significance |
| rs34134244 | 2:227,778,999 | C/T | — | likely benign |
| rs200943797 | 2:227,779,019 | G/A | — | uncertain significance |
| rs1948739074 | 2:227,779,031 | C/T | — | uncertain significance |
| rs747440522 | 2:227,779,050 | C/G | — | uncertain significance |
| rs10165767 | 2:227,781,863 | G/A | intron variant | — |
| rs79028313 | 2:227,860,187 | C/T | — | benign |
| rs2472305153 | 2:227,860,200 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.