VWA3B (von Willebrand factor A domain containing 3B)

2014-11-01  

Identity

HGNC
LOCATION
2q11.2
LOCUSID
ALIAS
SCAR22
FUSION GENES

Other Information

Locus ID:

NCBI: 200403
MIM: 614884
HGNC: 28385
Ensembl: ENSG00000168658

Variants:

dbSNP: 200403
ClinVar: 200403
TCGA: ENSG00000168658
COSMIC: VWA3B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168658ENST00000416277F8WBX4
ENSG00000168658ENST00000422503F8W737
ENSG00000168658ENST00000432242F8WD56
ENSG00000168658ENST00000433678Q502W6
ENSG00000168658ENST00000448638F8WD48
ENSG00000168658ENST00000465555H0YDS6
ENSG00000168658ENST00000473149H0YEM4
ENSG00000168658ENST00000477737Q502W6
ENSG00000168658ENST00000489630H0YCW7
ENSG00000168658ENST00000495571H0YF54
ENSG00000168658ENST00000614454Q502W6

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
261570352016A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.8
261570352016A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.8
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

VWA3B (von Willebrand factor A domain containing 3B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75663/vwa3b-(von-willebrand-factor-a-domain-containing-3b)