Identity
HGNC
LOCATION
7q21.2
LOCUSID
ALIAS
CCDC132,VPS54L
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: 55610
MIM: 616465
HGNC: 25956
Ensembl: ENSG00000004766
Variants:
dbSNP: 55610
ClinVar: 55610
TCGA: ENSG00000004766
COSMIC: VPS50
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34037727 | 2021 | Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis. | 4 |
| 34037727 | 2021 | Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis. | 4 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
VPS50 (VPS50 subunit of EARP/GARPII complex)
Atlas Genet Cytogenet Oncol Haematol. 2015-09-01
Online version: http://atlasgeneticsoncology.org/gene/77794/
