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: 144347
MIM: 615927
HGNC: 27051
Ensembl: ENSG00000178882
Variants:
dbSNP: 144347
ClinVar: 144347
TCGA: ENSG00000178882
COSMIC: RFLNA
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000178882 | ENST00000324038 | Q6ZTI6 |
| ENSG00000178882 | ENST00000338359 | Q6ZTI6 |
| ENSG00000178882 | ENST00000389727 | Q6ZTI6 |
| ENSG00000178882 | ENST00000546355 | Q6ZTI6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30796325 | 2019 | Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome. | 3 |
| 30796325 | 2019 | Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome. | 3 |
| 23490283 | 2013 | Novel single-nucleotide polymorphism markers predictive of pathologic response to preoperative chemoradiation therapy in rectal cancer patients. | 13 |
| 23490283 | 2013 | Novel single-nucleotide polymorphism markers predictive of pathologic response to preoperative chemoradiation therapy in rectal cancer patients. | 13 |
Citation
Dessen P
RFLNA (refilin A)
Atlas Genet Cytogenet Oncol Haematol. 2016-08-01
Online version: http://atlasgeneticsoncology.org/gene/55904/rflna-(refilin-a)
