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: 91869
MIM: 611908
HGNC: 30220
Ensembl: ENSG00000163933
Variants:
dbSNP: 91869
ClinVar: 91869
TCGA: ENSG00000163933
COSMIC: RFT1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163933 | ENST00000296292 | Q96AA3 |
| ENSG00000163933 | ENST00000394738 | B5MDE0 |
| ENSG00000163933 | ENST00000467048 | C9JP01 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30071302 | 2019 | A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation. | 1 |
| 30071302 | 2019 | A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation. | 1 |
| 26892341 | 2016 | RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy. | 2 |
| 26892341 | 2016 | RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy. | 2 |
| 23111317 | 2012 | RFT1-CDG in adult siblings with novel mutations. | 4 |
| 23111317 | 2012 | RFT1-CDG in adult siblings with novel mutations. | 4 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 19856127 | 2009 | RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. | 10 |
| 19856127 | 2009 | RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. | 10 |
| 18313027 | 2008 | Human RFT1 deficiency leads to a disorder of N-linked glycosylation. | 22 |
| 18313027 | 2008 | Human RFT1 deficiency leads to a disorder of N-linked glycosylation. | 22 |
Citation
Dessen P
RFT1 (RFT1 homolog)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54580/rft1-(rft1-homolog)
