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: 157680
MIM: 607817
HGNC: 2183
Ensembl: ENSG00000132549
Variants:
dbSNP: 157680
ClinVar: 157680
TCGA: ENSG00000132549
COSMIC: VPS13B
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37090188 | 2023 | A Novel Variant in VPS13B Underlying Cohen Syndrome. | 0 |
| 37090188 | 2023 | A Novel Variant in VPS13B Underlying Cohen Syndrome. | 0 |
| 35690661 | 2022 | Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome. | 7 |
| 35690661 | 2022 | Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome. | 7 |
| 33025479 | 2021 | Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome. | 3 |
| 33547071 | 2021 | A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. | 19 |
| 34041686 | 2021 | A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome. | 2 |
| 33025479 | 2021 | Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome. | 3 |
| 33547071 | 2021 | A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. | 19 |
| 34041686 | 2021 | A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome. | 2 |
| 30602132 | 2020 | CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. | 4 |
| 31444703 | 2020 | Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome. | 0 |
| 31580008 | 2020 | Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene. | 6 |
| 31825161 | 2020 | A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome. | 5 |
| 32375900 | 2020 | Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations. | 8 |
Citation
Dessen P
VPS13B (vacuolar protein sorting 13 homolog B)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75625/vps13b-(vacuolar-protein-sorting-13-homolog-b)
