rs117438887
This variant is located in the DDX27 gene.
▶ClinVar annotation
not provided; Malignant lymphoma, large B-cell, diffuse; Gastric cancer; Malignant tumor of esophagus; Cervical cancer; Clear cell carcinoma of kidney; Sarcoma; Nonpapillary renal cell carcinoma; Familial cancer of breast; Uterine carcinosarcoma; Thyroid cancer, nonmedullary, 1; Melanoma; Hepatocellular carcinoma; Uterine corpus endometrial carcinoma
View on ClinVar →About DDX27
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]
View all DDX27 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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