VWA8 (von Willebrand factor A domain containing 8)

2014-11-01  

Identity

HGNC
LOCATION
13q14.11
LOCUSID
ALIAS
KIAA0564,P7BP2
FUSION GENES

Other Information

Locus ID:

NCBI: 23078
MIM: 617509
HGNC: 29071
Ensembl: ENSG00000102763

Variants:

dbSNP: 23078
ClinVar: 23078
TCGA: ENSG00000102763
COSMIC: VWA8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102763ENST00000281496A3KMH1
ENSG00000102763ENST00000379310A3KMH1

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
370120522023Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.2
370120522023Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.2
320273552020A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2.0
320273552020A novel dynein-type AAA+ protein with peroxisomal targeting signal type 2.0
302048802018A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.0
302048802018A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.0
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205289572010A genome-wide association study of bipolar disorder and comorbid migraine.21
206639232010A genome-wide scan for common alleles affecting risk for autism.288
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205289572010A genome-wide association study of bipolar disorder and comorbid migraine.21
206639232010A genome-wide scan for common alleles affecting risk for autism.288

Citation

Dessen P

VWA8 (von Willebrand factor A domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75667/favicon/js/meetings/