DDX4
DEAD-box helicase 4
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 homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs778132035 | 5:55,034,841 | A/G | — | uncertain significance |
| rs146565989 | 5:55,042,011 | A/G | — | uncertain significance |
| rs753089066 | 5:55,059,053 | G/A | — | uncertain significance |
| rs371259863 | 5:55,059,890 | G/A | — | uncertain significance |
| rs143793571 | 5:55,063,717 | A/T | — | uncertain significance |
| rs141132406 | 5:55,063,738 | A/G | — | uncertain significance |
| rs570373422 | 5:55,063,749 | A/C | — | uncertain significance |
| rs2532730809 | 5:55,075,815 | G/A | — | uncertain significance |
| rs143562242 | 5:55,075,831 | A/G | — | uncertain significance |
| rs202112137 | 5:55,076,917 | T/C | — | uncertain significance |
| rs1404390780 | 5:55,077,801 | G/A | — | uncertain significance |
| rs1428240003 | 5:55,081,575 | T/C | — | uncertain significance |
| rs2305124 | 5:55,081,677 | A/G | — | uncertain significance |
| rs756714199 | 5:55,082,389 | T/C | — | uncertain significance |
| rs373718121 | 5:55,082,392 | C/T | — | uncertain significance |
| rs1742265770 | 5:55,082,458 | G/A | — | uncertain significance |
| rs778106697 | 5:55,083,714 | A/T | — | uncertain significance |
| rs779576435 | 5:55,083,732 | G/A | — | uncertain significance |
| rs142659936 | 5:55,083,744 | T/C | — | uncertain significance |
| rs1449957128 | 5:55,083,789 | T/C | — | uncertain significance |
| rs73131156 | 5:55,083,837 | A/G | — | benign |
| rs374596360 | 5:55,086,410 | T/G | — | uncertain significance |
| rs569670340 | 5:55,086,512 | G/A | — | uncertain significance |
| rs553954635 | 5:55,087,537 | C/T | — | — |
| rs201103498 | 5:55,088,486 | C/G | — | uncertain significance |
| rs145819871 | 5:55,088,510 | T/G | — | benign |
| rs764804497 | 5:55,088,524 | A/G | — | uncertain significance |
| rs139850021 | 5:55,088,580 | A/G | — | benign |
| rs191927359 | 5:55,090,656 | A/G | intron variant | — |
| rs1743100193 | 5:55,094,262 | C/T | — | uncertain significance |
| rs2532837489 | 5:55,094,316 | C/T | — | uncertain significance |
| rs906645756 | 5:55,094,391 | G/A | — | uncertain significance |
| rs71622199 | 5:55,100,297 | G/A | intron variant | — |
| rs368614330 | 5:55,110,934 | A/G | — | uncertain significance |
| rs2532935932 | 5:55,112,328 | C/T | — | uncertain significance |
| rs1744432066 | 5:55,112,343 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.