DDX10

DEAD-box helicase 10

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, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]

Known Variants61 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14962293411:108,536,011C/G—likely benign
rs13992423911:108,544,247A/G—likely benign
rs75043440911:108,546,371C/T—uncertain significance
rs14987762211:108,546,460A/G—benign
rs76500454911:108,547,820A/C—uncertain significance
rs36809327411:108,547,831G/A—uncertain significance
rs77937047611:108,547,879C/G—uncertain significance
rs76951055011:108,547,911G/T—uncertain significance
rs134600086011:108,549,106T/G—uncertain significance
rs14030320811:108,550,130G/C—uncertain significance
rs77969369511:108,550,175A/G—uncertain significance
rs36991967711:108,550,178C/T—uncertain significance
rs6175152611:108,550,285T/C—likely benign
rs14304916311:108,559,761G/A—uncertain significance
rs54233486011:108,560,792G/A——
rs254828581111:108,562,613T/G—uncertain significance
rs76275568411:108,562,637G/A—uncertain significance
rs76253405411:108,562,727C/T—uncertain significance
rs75923266111:108,562,748T/C—uncertain significance
rs37642748411:108,564,239G/A—likely benign
rs77753314211:108,564,274T/G—uncertain significance
rs11695346111:108,586,617A/G—benign
rs75423085311:108,586,626T/C—uncertain significance
rs56451792011:108,590,537A/G—uncertain significance
rs6175534811:108,593,787C/T—benign
rs76527645611:108,593,790A/T—uncertain significance
rs77916865911:108,593,833G/A—uncertain significance
rs146653878111:108,593,837C/T—uncertain significance
rs77622582611:108,593,840C/G—uncertain significance
rs54164965711:108,593,869A/G—uncertain significance
rs75432563911:108,593,911G/A—uncertain significance
rs6199635711:108,593,922C/T—benign
rs6199635811:108,593,947A/G—uncertain significance
rs37754486811:108,593,985C/T—likely benign
rs209430099211:108,594,008A/G—uncertain significance
rs14088670111:108,594,020C/G—uncertain significance
rs14345479511:108,594,041C/A—uncertain significance
rs75887165111:108,594,047C/T—uncertain significance
rs209430107811:108,594,055A/T—uncertain significance
rs14471464211:108,594,124G/A—uncertain significance
rs13852605211:108,594,142C/T—uncertain significance
rs75101351911:108,594,143G/A—uncertain significance
rs36858029811:108,594,148A/G—uncertain significance
rs75676807511:108,594,157G/C—uncertain significance
rs15026228411:108,594,188A/G—likely benign
rs75477561411:108,709,182C/A—uncertain significance
rs54643686311:108,709,185T/C—uncertain significance
rs20115644411:108,712,078A/G—uncertain significance
rs14012873811:108,712,103A/G—uncertain significance
rs75061340011:108,722,889C/G—uncertain significance
rs14227938111:108,722,903A/C—uncertain significance
rs75654931211:108,722,935A/G—uncertain significance
rs249651791611:108,788,627G/T—uncertain significance
rs76963071011:108,788,640A/T—uncertain significance
rs18719523011:108,809,799G/Aintron variant—
rs14105733911:108,811,027C/T—likely benign
rs6175152711:108,811,036A/G—benign
rs121999306611:108,811,055A/G—uncertain significance
rs127551854311:108,811,056A/C—uncertain significance
rs89688780411:108,811,074T/C—uncertain significance
rs249654668111:108,811,137G/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.