DDX27
DEAD-box helicase 27
Summary
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs146011039 | 20:47,835,942 | G/T | — | uncertain significance |
| rs141661734 | 20:47,835,953 | G/A | — | uncertain significance |
| rs750259023 | 20:47,835,998 | C/T | — | uncertain significance |
| rs200304299 | 20:47,836,006 | A/C | — | likely benign |
| rs2516730383 | 20:47,836,035 | T/A | — | uncertain significance |
| rs776760256 | 20:47,837,995 | A/G | — | uncertain significance |
| rs532323261 | 20:47,839,891 | G/T | — | uncertain significance |
| rs747897078 | 20:47,839,935 | A/G | — | uncertain significance |
| rs769877637 | 20:47,839,943 | G/A | — | uncertain significance |
| rs117438887 | 20:47,839,969 | A/G | — | benign |
| rs6125597 | 20:47,840,772 | T/C | intron variant | — |
| rs377706221 | 20:47,841,506 | A/G | — | uncertain significance |
| rs151239397 | 20:47,841,650 | G/A | — | benign |
| rs61748377 | 20:47,841,706 | G/A | — | likely benign |
| rs11908347 | 20:47,842,015 | C/T | intron variant | — |
| rs1280014730 | 20:47,842,997 | A/G | — | uncertain significance |
| rs11907497 | 20:47,843,620 | T/C | intron variant | — |
| rs238166 | 20:47,845,262 | C/T | — | benign |
| rs144748855 | 20:47,845,311 | G/A | — | uncertain significance |
| rs760505992 | 20:47,845,323 | C/T | — | uncertain significance |
| rs138673946 | 20:47,845,345 | C/T | — | uncertain significance |
| rs374821878 | 20:47,846,778 | C/T | — | uncertain significance |
| rs772595375 | 20:47,846,785 | C/G | — | uncertain significance |
| rs13038866 | 20:47,849,216 | G/A | intron variant | — |
| rs749215203 | 20:47,849,905 | G/A | — | uncertain significance |
| rs873434 | 20:47,851,624 | C/T | — | uncertain significance |
| rs1309484819 | 20:47,852,718 | G/A | — | uncertain significance |
| rs957074506 | 20:47,852,758 | G/A | — | uncertain significance |
| rs374365767 | 20:47,852,767 | C/T | — | uncertain significance |
| rs141067182 | 20:47,852,981 | C/T | — | uncertain significance |
| rs780778824 | 20:47,852,998 | G/T | — | uncertain significance |
| rs2516752446 | 20:47,853,018 | C/T | — | uncertain significance |
| rs748961024 | 20:47,853,042 | C/T | — | uncertain significance |
| rs772453511 | 20:47,855,503 | C/T | — | uncertain significance |
| rs748666131 | 20:47,855,777 | A/C | — | uncertain significance |
| rs201290515 | 20:47,855,830 | G/A | — | uncertain significance |
| rs35759030 | 20:47,858,290 | G/A | — | benign |
| rs1980487004 | 20:47,858,438 | G/A | — | uncertain significance |
| rs774804993 | 20:47,858,740 | C/T | — | uncertain significance |
| rs773028728 | 20:47,859,175 | C/T | — | uncertain significance |
| rs913434773 | 20:47,860,189 | A/C | — | uncertain significance |
| rs141513874 | 20:47,860,212 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.