DROSHA
drosha ribonuclease III
Summary
This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016]
Known Variants104 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs642321 | 5:31,401,003 | T/C | 3 prime UTR variant | — |
| rs10719 | 5:31,401,447 | A/C | — | — |
| rs1739983209 | 5:31,401,547 | T/C | — | uncertain significance |
| rs200996611 | 5:31,401,632 | G/A | — | likely benign |
| rs147180304 | 5:31,406,980 | T/G | — | benign |
| rs772930402 | 5:31,407,059 | G/A | — | likely benign |
| rs2477849690 | 5:31,409,166 | T/C | — | uncertain significance |
| rs181677016 | 5:31,409,210 | G/A | — | likely benign |
| rs770406706 | 5:31,409,236 | G/A | — | uncertain significance |
| rs2241337 | 5:31,409,252 | A/G | — | benign |
| rs1579987863 | 5:31,410,864 | T/C | — | uncertain significance |
| rs372814914 | 5:31,410,866 | C/T | — | likely benign |
| rs375243687 | 5:31,410,887 | C/T | — | likely benign |
| rs112898671 | 5:31,410,893 | A/G | — | likely benign |
| rs61748189 | 5:31,410,923 | G/A | — | benign |
| rs370430557 | 5:31,410,947 | C/T | — | likely benign |
| rs750285143 | 5:31,410,950 | T/C | — | likely benign |
| rs874332 | 5:31,413,149 | A/T | — | — |
| rs2287584 | 5:31,423,007 | T/C | — | benign |
| rs749231991 | 5:31,424,570 | G/A | — | likely benign |
| rs1394064377 | 5:31,424,577 | T/G | — | uncertain significance |
| rs117987306 | 5:31,429,573 | T/C | — | benign |
| rs370990538 | 5:31,429,602 | G/A | — | uncertain significance |
| rs61751195 | 5:31,429,629 | G/A | — | likely benign |
| rs368428431 | 5:31,429,648 | A/T | — | likely benign |
| rs1003588847 | 5:31,431,727 | G/A | — | uncertain significance |
| rs10039385 | 5:31,435,887 | A/G | — | benign |
| rs909060563 | 5:31,435,902 | A/T | — | likely benign |
| rs17485810 | 5:31,435,971 | G/A | — | benign |
| rs377397902 | 5:31,437,409 | C/T | — | likely benign |
| rs2478027029 | 5:31,449,460 | A/G | — | likely benign |
| rs886369396 | 5:31,449,495 | T/C | — | uncertain significance |
| rs6886834 | 5:31,451,449 | G/A | intron variant | — |
| rs771020003 | 5:31,451,690 | G/A | — | uncertain significance |
| rs372313396 | 5:31,451,711 | G/A | — | uncertain significance |
| rs904940176 | 5:31,451,733 | T/C | — | likely benign |
| rs917837039 | 5:31,451,742 | T/G | — | likely benign |
| rs2478126940 | 5:31,468,064 | C/T | — | uncertain significance |
| rs138703401 | 5:31,468,075 | A/G | — | likely benign |
| rs767966111 | 5:31,468,119 | C/T | — | uncertain significance |
| rs184024980 | 5:31,468,120 | G/A | — | likely benign |
| rs202101007 | 5:31,472,171 | G/A | — | uncertain significance |
| rs902058029 | 5:31,486,656 | T/C | — | uncertain significance |
| rs1397819978 | 5:31,493,314 | A/C | — | uncertain significance |
| rs187001209 | 5:31,493,365 | G/A | — | likely benign |
| rs200514522 | 5:31,493,395 | G/A | — | likely benign |
| rs762755765 | 5:31,495,471 | C/T | — | likely benign |
| rs61751194 | 5:31,495,479 | C/A | — | likely benign |
| rs78393591 | 5:31,502,238 | G/A | upstream gene variant | — |
| rs372996287 | 5:31,504,713 | G/A | — | likely benign |
| rs1580339459 | 5:31,508,718 | A/G | — | likely benign |
| rs2150052710 | 5:31,508,817 | C/A | — | pathogenic |
| rs370977443 | 5:31,508,891 | G/A | — | likely benign |
| rs748214927 | 5:31,511,213 | C/G | — | uncertain significance |
| rs1261656161 | 5:31,515,140 | G/A | — | likely benign |
| rs7729936 | 5:31,515,221 | C/T | — | benign |
| rs752959469 | 5:31,515,294 | C/T | — | uncertain significance |
| rs779032953 | 5:31,515,323 | G/A | — | likely benign |
| rs369352228 | 5:31,515,325 | G/A | — | uncertain significance |
| rs1739171420 | 5:31,515,564 | T/A | — | uncertain significance |
| rs1407360896 | 5:31,515,604 | T/C | — | uncertain significance |
| rs55656741 | 5:31,515,657 | G/A | — | benign |
| rs560794749 | 5:31,515,664 | C/G | — | uncertain significance |
| rs756137496 | 5:31,521,233 | C/T | — | uncertain significance |
| rs2478399957 | 5:31,521,301 | G/A | — | likely benign |
| rs201276010 | 5:31,526,205 | G/A | — | uncertain significance |
| rs756928342 | 5:31,526,210 | C/T | — | uncertain significance |
| rs544823531 | 5:31,526,258 | T/C | — | likely benign |
| rs545917535 | 5:31,526,271 | C/A | — | uncertain significance |
| rs35969247 | 5:31,526,272 | G/A | — | likely benign |
| rs201151813 | 5:31,526,285 | C/T | — | benign |
| rs750540831 | 5:31,526,291 | C/T | — | uncertain significance |
| rs749820255 | 5:31,526,298 | C/G | — | uncertain significance |
| rs202227062 | 5:31,526,409 | G/T | — | uncertain significance |
| rs371122199 | 5:31,526,433 | G/A | — | uncertain significance |
| rs1740562086 | 5:31,526,468 | G/T | — | uncertain significance |
| rs138754603 | 5:31,526,513 | T/C | — | likely benign |
| rs187031144 | 5:31,526,515 | G/A | — | likely benign |
| rs77034974 | 5:31,526,531 | G/A | — | benign |
| rs367918968 | 5:31,526,557 | C/T | — | likely benign |
| rs760078843 | 5:31,526,558 | G/A | — | uncertain significance |
| rs370727446 | 5:31,526,562 | T/C | — | uncertain significance |
| rs2478428162 | 5:31,526,588 | A/T | — | uncertain significance |
| rs2478428437 | 5:31,526,642 | G/A | — | uncertain significance |
| rs1580396270 | 5:31,526,717 | C/T | — | uncertain significance |
| rs372836185 | 5:31,526,740 | C/T | — | likely benign |
| rs199846087 | 5:31,526,741 | G/A | — | uncertain significance |
| rs541915232 | 5:31,526,756 | G/T | — | uncertain significance |
| rs758120846 | 5:31,526,757 | G/A | — | uncertain significance |
| rs34318439 | 5:31,526,779 | C/T | — | benign |
| rs149389256 | 5:31,526,792 | G/A | — | likely benign |
| rs765422251 | 5:31,526,808 | A/T | — | uncertain significance |
| rs546365755 | 5:31,526,816 | C/T | — | uncertain significance |
| rs1740629052 | 5:31,526,837 | G/T | — | uncertain significance |
| rs35342496 | 5:31,526,841 | G/T | — | benign |
| rs201445638 | 5:31,526,874 | G/A | — | likely benign |
| rs776826312 | 5:31,526,883 | A/G | — | uncertain significance |
| rs1384020854 | 5:31,526,921 | C/G | — | uncertain significance |
| rs1187982936 | 5:31,526,989 | C/T | — | likely benign |
| rs756841996 | 5:31,529,138 | G/A | — | likely benign |
Showing 100 of 104 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.