Von Willebrand Factor A Domain-Containing Protein 3B

Alternative Names

  • VWA3B
  • VWA Domain-Containing Protein 3B
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OMIM Number

614884

NCBI Gene ID

200403

Uniprot ID

Q502W6

Length

243,450 bases

No. of Exons

37

No. of isoforms

8

Protein Name

von Willebrand factor A domain-containing protein 3B

Molecular Mass

145748 Da

Amino Acid Count

1294

Genomic Location

chr2:98,087,167-98,330,616

Gene Map Locus
2q11.2

Description

This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal and membrane transport and the proteasome. Mutations in this gene are associated with Spinocerebellar ataxia, autosomal recessive 22. Alternatively spliced transcript variants have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_144992.5:c.655G>TSaudi ArabiaNC_000002.12:g.98121411G>TBenign, Likely BenignLikely PathogenicSpinocerebellar Ataxia, Autosomal Recessive 22NG_054753.1:g.39280G>T; NM_144992.5:c.655G>T; NP_659429.4:p.Glu219Ter139296152756020
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