DHX16
DEAH-box helicase 16
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, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]
Known Variants80 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754833325 | 6:30,621,147 | C/T | — | uncertain significance |
| rs1214749991 | 6:30,622,496 | T/C | — | uncertain significance |
| rs146265602 | 6:30,622,594 | C/G | — | benign |
| rs1447358889 | 6:30,622,613 | C/T | — | uncertain significance |
| rs1401661168 | 6:30,622,653 | T/C | — | uncertain significance |
| rs199903836 | 6:30,622,957 | G/A | — | uncertain significance |
| rs1368963520 | 6:30,622,986 | C/T | — | uncertain significance |
| rs771170421 | 6:30,623,032 | G/A | — | uncertain significance |
| rs34057232 | 6:30,623,069 | A/G | — | benign |
| rs188444038 | 6:30,623,270 | C/T | — | uncertain significance |
| rs1301428740 | 6:30,623,271 | G/A | — | uncertain significance |
| rs891765304 | 6:30,623,307 | G/A | — | uncertain significance |
| rs763910556 | 6:30,623,355 | T/A | — | uncertain significance |
| rs375251870 | 6:30,624,169 | G/A | — | uncertain significance |
| rs149087216 | 6:30,624,241 | T/C | — | benign |
| rs536496808 | 6:30,624,433 | G/A | — | uncertain significance |
| rs1469755408 | 6:30,624,476 | G/T | — | uncertain significance |
| rs151309714 | 6:30,624,540 | G/T | — | likely benign |
| rs2534377900 | 6:30,624,751 | A/G | — | uncertain significance |
| rs768833519 | 6:30,624,769 | C/T | — | uncertain significance |
| rs2534378629 | 6:30,624,781 | C/T | — | uncertain significance |
| rs1582931640 | 6:30,624,786 | C/A | — | pathogenic |
| rs771253786 | 6:30,624,812 | C/T | — | uncertain significance |
| rs1289616920 | 6:30,624,830 | T/C | — | uncertain significance |
| rs2534379898 | 6:30,624,844 | T/C | — | likely pathogenic |
| rs1582931908 | 6:30,624,856 | G/A | — | pathogenic |
| rs2534380148 | 6:30,624,859 | G/A | — | uncertain significance |
| rs755572358 | 6:30,624,869 | C/A | — | uncertain significance |
| rs747428805 | 6:30,627,284 | G/A | — | uncertain significance |
| rs143108219 | 6:30,627,338 | G/A | — | uncertain significance |
| rs2534408456 | 6:30,627,389 | C/T | — | uncertain significance |
| rs1582940678 | 6:30,627,820 | A/T | — | pathogenic |
| rs200255671 | 6:30,627,841 | G/A | — | uncertain significance |
| rs9262138 | 6:30,627,867 | T/C | — | benign |
| rs771594572 | 6:30,627,889 | G/T | — | uncertain significance |
| rs2534420890 | 6:30,627,955 | T/C | — | uncertain significance |
| rs2127583475 | 6:30,628,006 | C/T | — | likely pathogenic |
| rs150626426 | 6:30,629,585 | T/C | — | likely benign |
| rs1489590051 | 6:30,630,413 | G/C | — | uncertain significance |
| rs563572894 | 6:30,630,694 | C/T | — | likely benign |
| rs1582953009 | 6:30,632,615 | C/T | — | pathogenic |
| rs35836922 | 6:30,632,655 | T/C | — | benign |
| rs1374136350 | 6:30,632,705 | C/T | — | uncertain significance |
| rs758885138 | 6:30,632,706 | G/A | — | uncertain significance |
| rs572784064 | 6:30,632,757 | G/A | — | uncertain significance |
| rs35041809 | 6:30,632,764 | C/T | — | likely benign |
| rs367757181 | 6:30,632,772 | A/G | — | uncertain significance |
| rs138171651 | 6:30,632,862 | G/A | — | uncertain significance |
| rs2534486943 | 6:30,632,880 | A/C | — | uncertain significance |
| rs2534487419 | 6:30,632,901 | C/G | — | uncertain significance |
| rs17189239 | 6:30,632,919 | T/C | — | benign |
| rs141508885 | 6:30,632,977 | C/T | — | likely benign |
| rs768020321 | 6:30,632,991 | G/A | — | uncertain significance |
| rs2534489457 | 6:30,632,996 | T/C | — | uncertain significance |
| rs34505140 | 6:30,633,261 | C/T | — | benign |
| rs903369361 | 6:30,633,293 | G/A | — | uncertain significance |
| rs763949291 | 6:30,633,326 | C/T | — | uncertain significance |
| rs771684063 | 6:30,633,336 | G/A | — | uncertain significance |
| rs2534497756 | 6:30,633,359 | T/G | — | uncertain significance |
| rs149882569 | 6:30,633,386 | C/T | — | uncertain significance |
| rs372863262 | 6:30,633,387 | G/A | — | uncertain significance |
| rs199775700 | 6:30,633,458 | C/T | — | uncertain significance |
| rs148186800 | 6:30,637,510 | G/T | — | — |
| rs539487104 | 6:30,638,207 | C/T | — | uncertain significance |
| rs768315559 | 6:30,638,222 | G/A | — | uncertain significance |
| rs776349217 | 6:30,638,236 | T/G | — | uncertain significance |
| rs2534555489 | 6:30,638,608 | T/C | — | uncertain significance |
| rs531406624 | 6:30,638,722 | T/C | — | uncertain significance |
| rs2534557224 | 6:30,638,730 | C/T | — | uncertain significance |
| rs188894166 | 6:30,638,735 | G/T | — | likely benign |
| rs146739908 | 6:30,638,831 | T/A | — | benign |
| rs140919186 | 6:30,638,894 | C/T | — | conflicting classifications of pathogenicity |
| rs1002656365 | 6:30,638,895 | G/A | — | uncertain significance |
| rs1031329003 | 6:30,638,954 | T/C | — | uncertain significance |
| rs765108722 | 6:30,638,997 | G/A | — | uncertain significance |
| rs140943109 | 6:30,639,435 | T/C | downstream gene variant | — |
| rs369817718 | 6:30,640,404 | G/C | — | likely benign |
| rs34921364 | 6:30,640,478 | T/C | — | benign |
| rs2534574184 | 6:30,640,597 | C/G | — | uncertain significance |
| rs144057215 | 6:30,640,738 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.