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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
261570352016A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.6

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