SKIC2 Chromosome 6

SKI2 subunit of superkiller complex
141 variants 141 Health Risk

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What This Gene Does
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 human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ski2 like RNA helicases|SKI complex subunits"
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000204351
Associated Conditions (12)
Hepatocellular carcinoma
Trichohepatoenteric syndrome 2
Inborn genetic diseases
SKIC2-related disorder
Melanoma
Ovarian serous cystadenocarcinoma
Lung cancer
Trichohepatoenteric syndrome
Gastric cancer
Uterine corpus endometrial carcinoma
See cases
Immunodeficiency 57
Key Variants
RS1276606764
Conflicting classifications of pathogenicity
Hepatocellular carcinoma, Hepatocellular carcinoma
Health Risk
RS142860816
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS144418335
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS144670908
Conflicting classifications of pathogenicity
Inborn genetic diseases, SKIC2-related disorder, Melanoma
Health Risk
RS190972540
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, SKIC2-related disorder, Trichohepatoenteric syndrome 2
Health Risk
RS201764098
Conflicting classifications of pathogenicity
Health Risk
RS35985869
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374744199
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS553733225
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS565424838
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS577271106
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS58092713
Conflicting classifications of pathogenicity
Inborn genetic diseases, Trichohepatoenteric syndrome 2, Inborn genetic diseases
Health Risk
All Variants (141)
RSID Category Clinical Significance Conditions
RS1276606764 Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Hepatocellular carcinoma
RS142860816 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS144418335 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS144670908 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SKIC2-related disorder, Melanoma
RS190972540 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, SKIC2-related disorder, Trichohepatoenteric syndrome 2
RS201764098 Health Risk Conflicting classifications of pathogenicity —
RS35985869 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374744199 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS553733225 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS565424838 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS577271106 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS58092713 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Trichohepatoenteric syndrome 2, Inborn genetic diseases
RS61761944 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS748012447 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS764954300 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS765798583 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS767834988 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS771281472 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS774246307 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS774644201 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS777138745 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS778024754 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS779106194 Health Risk Conflicting classifications of pathogenicity —
RS779331758 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS78026291 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS781544014 Health Risk Conflicting classifications of pathogenicity —
RS886061305 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS886061306 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS1244156082 Health Risk Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS1375849231 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS1419680561 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS1426527653 Health Risk Likely pathogenic —
RS1475859257 Health Risk Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS1582187890 Health Risk Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS1772638226 Health Risk Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS1772839282 Health Risk Likely pathogenic —
RS1773017329 Health Risk Likely pathogenic —
RS2151813928 Health Risk Likely pathogenic —
RS2151815985 Health Risk Likely pathogenic —
RS2482901097 Health Risk Likely pathogenic —
RS2482907794 Health Risk Likely pathogenic —
RS2482907806 Health Risk Likely pathogenic —
RS2482923446 Health Risk Likely pathogenic —
RS2482941811 Health Risk Likely pathogenic —
RS2482941903 Health Risk Likely pathogenic —
RS2482951342 Health Risk Likely pathogenic —
RS2482974419 Health Risk Likely pathogenic —
RS2482986290 Health Risk Likely pathogenic —
RS2482992258 Health Risk Likely pathogenic —
RS2482998760 Health Risk Likely pathogenic SKIC2-related disorder, SKIC2-related disorder
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