SKIC3 Chromosome 5
SKI3 subunit of superkiller complex
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What This Gene Does
This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|SKI complex subunits"
Locus Type
gene with protein product
Location
5q15
Ensembl
ENSG00000198677
Associated Conditions (12)
Trichohepatoenteric syndrome 1
Inborn genetic diseases
SKIC3-related disorder
Familial cancer of breast
Melanoma
Hepatocellular carcinoma
Trichohepatoenteric syndrome
Inherited Immunodeficiency Diseases
Thyroid cancer
nonmedullary
1
Malignant tumor of urinary bladder
Key Variants
RS116690692
Conflicting classifications of pathogenicity
Health Risk
RS1174587137
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
Health Risk
RS1197018531
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138956788
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 1, SKIC3-related disorder, Trichohepatoenteric syndrome 1
Health Risk
RS141484061
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142880784
Conflicting classifications of pathogenicity
Health Risk
RS143227096
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
Health Risk
RS143346257
Conflicting classifications of pathogenicity
SKIC3-related disorder, SKIC3-related disorder
Health Risk
RS145496449
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 1, SKIC3-related disorder, Trichohepatoenteric syndrome 1
Health Risk
RS146627706
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
Health Risk
RS149287861
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149655074
Conflicting classifications of pathogenicity
Familial cancer of breast, Melanoma, Hepatocellular carcinoma
Health Risk
All Variants (176)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1746777262 | Health Risk | Pathogenic | — |
| RS1746796602 | Health Risk | Pathogenic | — |
| RS1747192100 | Health Risk | Pathogenic | — |
| RS1747335600 | Health Risk | Pathogenic | — |
| RS1747474847 | Health Risk | Pathogenic | — |
| RS1747685854 | Health Risk | Pathogenic | — |
| RS1748067893 | Health Risk | Pathogenic | — |
| RS1748122848 | Health Risk | Pathogenic | — |
| RS201249919 | Health Risk | Pathogenic | — |
| RS2112308448 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1 |
| RS2112327948 | Health Risk | Pathogenic | — |
| RS2112331217 | Health Risk | Pathogenic | — |
| RS2112339517 | Health Risk | Pathogenic | — |
| RS2112344793 | Health Risk | Pathogenic | — |
| RS2112346642 | Health Risk | Pathogenic | — |
| RS2112376248 | Health Risk | Pathogenic | — |
| RS2530684534 | Health Risk | Pathogenic | — |
| RS2530694702 | Health Risk | Pathogenic | — |
| RS2530705873 | Health Risk | Pathogenic | — |
| RS2530705934 | Health Risk | Pathogenic | — |
| RS2530712461 | Health Risk | Pathogenic | — |
| RS2530712625 | Health Risk | Pathogenic | — |
| RS2530717725 | Health Risk | Pathogenic | — |
| RS2530717734 | Health Risk | Pathogenic | — |
| RS2530719359 | Health Risk | Pathogenic | — |
| RS2530720118 | Health Risk | Pathogenic | — |
| RS2530739865 | Health Risk | Pathogenic | — |
| RS2530755469 | Health Risk | Pathogenic | — |
| RS2530755757 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1 |
| RS2530755774 | Health Risk | Pathogenic | — |
| RS2530765408 | Health Risk | Pathogenic | — |
| RS2530767942 | Health Risk | Pathogenic | — |
| RS2530769210 | Health Risk | Pathogenic | — |
| RS2530774036 | Health Risk | Pathogenic | — |
| RS2530796143 | Health Risk | Pathogenic | — |
| RS2530802371 | Health Risk | Pathogenic | — |
| RS2530802395 | Health Risk | Pathogenic | — |
| RS2530802502 | Health Risk | Pathogenic | — |
| RS2530808873 | Health Risk | Pathogenic | — |
| RS2530815080 | Health Risk | Pathogenic | — |
| RS2530815139 | Health Risk | Pathogenic | — |
| RS370373017 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1 |
| RS375774582 | Health Risk | Pathogenic | — |
| RS387907147 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1 |
| RS387907148 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1 |
| RS534237033 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1 |
| RS540722823 | Health Risk | Pathogenic | — |
| RS541022022 | Health Risk | Pathogenic | — |
| RS748885294 | Health Risk | Pathogenic | — |
| RS749337189 | Health Risk | Pathogenic | — |