Gene Symbol: VWA3B
Description: von Willebrand factor A domain containing 3B
Alias: SCAR22, von Willebrand factor A domain-containing protein 3B, VWA domain-containing protein 3B
Species: human
Products:     VWA3B

Top Publications

  1. Leparc G, Mitra R. Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human. Nucleic Acids Res. 2007;35:3192-202 pubmed
    ..Overall, PASE was able to uncover 59 novel alternative cassette exons in C. elegans and humans through a genome-wide ab initio prediction method that enriches for exons involved in signaling. ..
  2. Kawarai T, Tajima A, Kuroda Y, Saji N, Orlacchio A, Terasawa H, et al. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. J Neurol Neurosurg Psychiatry. 2016;87:656-62 pubmed publisher
    ..Using whole exome sequencing, six homozygous variants in genes in the region were detected. Only one variant, VWA3B c.A1865C, results in a change of a highly conserved amino acid (p.K622T) and was not present in control samples...
  3. Mesbah Uddin M, Guldbrandtsen B, Iso Touru T, Vilkki J, de Koning D, Boichard D, et al. Genome-wide mapping of large deletions and their population-genetic properties in dairy cattle. DNA Res. 2017;: pubmed publisher
    ..We observed higher differentiation among breeds for deletions in some genic-regions, such as ABCA12, TTC1, VWA3B, TSHR, DST/BPAG1, and CD1D...