DDX39A
DExD-box helicase 39A
Summary
This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and 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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1217352698 | 19:14,519,762 | C/T | — | uncertain significance |
| rs1360378048 | 19:14,519,864 | C/T | — | uncertain significance |
| rs141207973 | 19:14,520,379 | C/T | — | uncertain significance |
| rs1976471179 | 19:14,520,382 | T/C | — | uncertain significance |
| rs897653601 | 19:14,520,387 | G/A | — | uncertain significance |
| rs371219917 | 19:14,520,595 | G/A | — | uncertain significance |
| rs373303600 | 19:14,521,054 | G/C | — | uncertain significance |
| rs786205516 | 19:14,521,083 | A/T | missense variant | pathogenic |
| rs145427640 | 19:14,521,123 | T/C | — | uncertain significance |
| rs747004457 | 19:14,521,137 | C/T | — | uncertain significance |
| rs777727425 | 19:14,521,808 | C/A | — | uncertain significance |
| rs138882381 | 19:14,521,875 | C/T | — | uncertain significance |
| rs375109053 | 19:14,521,924 | A/G | — | uncertain significance |
| rs2512787501 | 19:14,523,921 | A/G | — | uncertain significance |
| rs775866358 | 19:14,523,961 | C/A | — | uncertain significance |
| rs112820981 | 19:14,523,988 | T/C | — | benign |
| rs11882206 | 19:14,525,140 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.