Identity
HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
170A,DDX13,HLP,SKI2,SKI2W,SKIV2,SKIV2L1,THES2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6499
MIM: 600478
HGNC: 10898
Ensembl: ENSG00000204351
Variants:
dbSNP: 6499
ClinVar: 6499
TCGA: ENSG00000204351
COSMIC: SKIV2L
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29527791 | 2018 | Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects. | 25 |
| 29527791 | 2018 | Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects. | 25 |
| 27484132 | 2017 | Association between SKIV2L polymorphism rs429608 and age-related macular degeneration: A meta-analysis. | 2 |
| 27484132 | 2017 | Association between SKIV2L polymorphism rs429608 and age-related macular degeneration: A meta-analysis. | 2 |
| 27050310 | 2016 | Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. | 15 |
| 27431780 | 2016 | Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome. | 12 |
| 27050310 | 2016 | Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. | 15 |
| 27431780 | 2016 | Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome. | 12 |
| 25714577 | 2015 | Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome. | 10 |
| 25714577 | 2015 | Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome. | 10 |
| 24865191 | 2014 | Genetic variants in the SKIV2L gene in exudative age-related macular degeneration in the Japanese population. | 5 |
| 24865191 | 2014 | Genetic variants in the SKIV2L gene in exudative age-related macular degeneration in the Japanese population. | 5 |
| 23260260 | 2013 | Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy. | 19 |
| 23679950 | 2013 | A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease. | 13 |
| 23260260 | 2013 | Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy. | 19 |
Citation
Dessen P
SKIV2L (Ski2 like RNA helicase)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46858/skiv2l-(ski2-like-rna-helicase)
