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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VWA1 Gene

protein-coding   GIFtS: 49
GCID: GC01P001370

Von Willebrand Factor A Domain Containing 1

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Von Willebrand Factor A Domain Containing 11 2
WARP2 5
Von Willebrand Factor A Domain-Containing Protein 12
Von Willebrand Factor A Domain-Related Protein2

External Ids:    HGNC: 309101   Entrez Gene: 648562   Ensembl: ENSG000001794037   OMIM: 6119015   UniProtKB: Q6PCB03   

Export aliases for VWA1 gene to outside databases

Previous GC identifers: GC01P001457 GC01P001360 GC01P000645


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for VWA1 Gene:
VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix
proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 (PubMed
12062410)).(supplied by OMIM, Nov 2010)

GeneCards Summary for VWA1 Gene: 
VWA1 (von Willebrand factor A domain containing 1) is a protein-coding gene. Diseases associated with VWA1 include byssinosis. GO annotations related to this gene include identical protein binding. An important paralog of this gene is MATN4.

UniProtKB/Swiss-Prot: VWA1_HUMAN, Q6PCB0
Function: Promotes matrix assembly (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004350.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VWA1 gene promoter:
         Bach1   AML1a   Pax-5   GR-beta   ATF-2   XBP-1   C/EBPalpha   CRE-BP1   HEN1   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVWA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for VWA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VWA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.33

VWA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWA1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P001370:  view genomic region     (about GC identifiers)

Start:
1,370,241 bp from pter      End:
1,378,262 bp from pter
Size:
8,022 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VWA1_HUMAN, Q6PCB0 (See protein sequence)
Recommended Name: von Willebrand factor A domain-containing protein 1 precursor  
Size: 445 amino acids; 46804 Da
Subunit: Homodimer or homomultimer. Interacts with HSPG2 (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity)
Secondary accessions: A8K692 B3KUA1 E9PB53 Q7L5D7 Q9H6J5
Alternative splicing: 3 isoforms:  Q6PCB0-1   Q6PCB0-2   Q6PCB0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VWA1: NX_Q6PCB0

Explore proteomics data for VWA1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6PCB0

  • VWA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VWA1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_073745.2  NP_954572.2  

    ENSEMBL proteins: 
     ENSP00000463643   ENSP00000423404   ENSP00000417185   ENSP00000464343   ENSP00000385008  

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005604basement membrane IEA--
    GO:0005614interstitial matrix IEA--
    GO:0031012extracellular matrix ----

    VWA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing

    3 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry Q6PCB0

    ProtoNet protein and cluster: Q6PCB0

    1 Blocks protein domain: IPB002035 Von Willebrand factor type A domain signature

    UniProtKB/Swiss-Prot: VWA1_HUMAN, Q6PCB0
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 1 VWFA domain


    VWA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VWA1_HUMAN, Q6PCB0
    Function: Promotes matrix assembly (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042802identical protein binding IEA--
         
    VWA1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Vwa1):
     behavior/neurological  integument  muscle  nervous system  skeleton 

    VWA1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for VWA1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for VWA1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for VWA1 (Q6PCB03 ENSP000004171854) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPG2P981603, ENSP000003638274I2D: score=1 STRING: ENSP00000363827
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030198extracellular matrix organization IEA--
    GO:0048266behavioral response to pain IEA--

    VWA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VWA1

    Search CenterWatch for drugs/clinical trials and news about VWA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for VWA1 gene (2 alternative transcripts): 
    NM_022834.4  NM_199121.2  

    Unigene Cluster for VWA1:

    Von Willebrand factor A domain containing 1
    Hs.449009  [show with all ESTs]
    Unigene Representative Sequence: NM_022834
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495558 ENST00000338660 ENST00000476993(uc001afs.3) ENST00000471398
    ENST00000404702(uc001afr.3)
    miRNA
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    hsa-miR-661 hsa-miR-4271 hsa-miR-509-5p hsa-miR-491-5p hsa-miR-29a* hsa-miR-509-3-5p hsa-miR-1205
    SwitchGear 3'UTR luciferase reporter plasmidVWA1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK025868.1 AK075366.1 AK096773.1 AK291557.1 AL137722.1 BC003543.1 BC059409.1 

    15 DOTS entries:

    DT.70103179  DT.318405  DT.121440642  DT.100794894  DT.91839434  DT.100794893  DT.102839750  DT.40280238 
    DT.92416976  DT.95154486  DT.121440594  DT.121440619  DT.95328576  DT.100031242  DT.75183532 

    24/229 AceView cDNA sequences (see all 229):

    BQ632835 BQ286150 AA910436 AW271737 BQ287948 BU076504 AI859403 BU501952 
    CB068494 AJ712426 BI791988 AI346481 BM708897 BM313507 BM853314 CB068695 
    BQ786908 BU078936 CA841653 BQ776746 BU072947 AI359648 BM763213 AW292148 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for VWA1    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c
    SP1:        -     -                           
    SP2:                                          
    SP3:        -                                 


    ECgene alternative splicing isoforms for VWA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VWA1 expression in normal human tissues (normalized intensities)      VWA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAGGACAC
    VWA1 Expression
    About this image


    VWA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             corpus callosum   
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Pancreas (Endocrine System)
     
     Spinal Cord (Nervous System)

    See VWA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VWA1

    SOURCE GeneReport for Unigene cluster: Hs.449009
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for VWA1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwa11 , 5 von Willebrand factor A domain containing 11, 5 79.28(n)1
    78.31(a)1
      4 (87.31 cM)5
    2462281  NM_147776.41  NP_680085.31 
     1557681495 
    chicken
    (Gallus gallus)
    Aves VWA11 von Willebrand factor A domain containing 1 61.84(n)
    53.3(a)
      419413  XM_417574.3  XP_417574.3 
    lizard
    (Anolis carolinensis)
    Reptilia VWA16
    --
    Uncharacterized protein
    54(a)
    5(a)
    1 ↔ 1
    possible ortholog
    AAWZ02039143(6848-8092)
    5(3529736-3603275)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5683791 von Willebrand factor A domain-containing protein 1-like 51.4(n)
    39.84(a)
      568379  XM_691704.2  XP_696796.2 


    ENSEMBL Gene Tree for VWA1 (if available)
    TreeFam Gene Tree for VWA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VWA1 gene
    MATN42  COL14A12  MATN32  MATN22  VIT2  COL12A12  COCH2  COL20A12  
    VWA22  MATN12  
    1 SIMAP similar gene for VWA1 using alignment to 3 protein entries:     VWA1_HUMAN (see all proteins):
    COL21A1

    VWA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/184 SNPs in VWA1 are shown (see all 184)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs9243981,2
    C--1371966(-) TGAGCC/TGTGGG 2 -- int10--------
    rs1129567791,2
    C,F--1372151(+) TACAGG/ACCTCT 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1847821611,2
    C--1372268(+) TGGGGA/GGCCCA 2 -- int10--------
    rs1891685941,2
    C--1372269(+) GGGGGG/TCCCAC 2 -- int10--------
    rs2000555831,2
    C--1372422(+) GCTCCA/GCTGCC 3 P syn1 int10--------
    rs1445690331,2
    C,F--1372441(+) CCGGGG/TCCCTG 3 A S mis1 int11Minor allele frequency- T:0.00NA 4456
    rs2019680751,2
    C--1372537(+) CGGTGA/CGTGCT 3 S R mis1 int10--------
    rs1478148271,2
    C,F--1372554(+) CAGCGC/TATGGG 3 R syn1 int11Minor allele frequency- T:0.00NA 4428
    rs1503710021,2
    F--1372569(+) ACCCAC/TACTGG 3 H syn1 int11Minor allele frequency- T:0.00NA 4442
    rs1403193251,2
    C--1372668(+) GATGGC/TGGCTC 3 G syn1 int10--------

    HapMap Linkage Disequilibrium report for VWA1 (1370241 - 1378262 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for VWA1 (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv871787CNV Loss21882294
    dgv12n71CNV Loss21882294
    dgv25n71CNV Loss21882294
    dgv19n71CNV Loss21882294
    dgv10n71CNV Loss21882294
    dgv34n71CNV Loss21882294
    nsv871837CNV Loss21882294
    dgv33n71CNV Loss21882294
    dgv40n71CNV Loss21882294
    dgv20n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611901    OMIM disorders: --

    2 diseases for VWA1:    About MalaCards
    byssinosis    


    VWA1 for disorders           About GeneDecksing


    Export disorders for VWA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for VWA1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with VWA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Is there an evolutionary relationship between WARP (von Willebrand factor A-domain-related protein) and the FACIT and FACIT-like collagens? (PubMed id 14527666)1, 3, 9 Fitzgerald J. and Bateman J.F. (2003)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. WARP is a new member of the von Willebrand factor A-domain superfamily of extracellular matrix proteins. (PubMed id 12062410)1, 3 Fitzgerald J....Bateman J.F. (2002)
    4. WARP interacts with collagen VI-containing microfibril s in the pericellular matrix of human chondrocytes. (PubMed id 23300779)1 Hansen U....Fitzgerald J. (2012)
    5. Immunocytochemical distribution of WARP (von Willebra nd A domain-related protein) in the inner ear. (PubMed id 20971096)1 Duong T....Ishiyama G. (2011)
    6. Conformational stability and domain unfolding of the Von Willebrand factor A domains. (PubMed id 17187823)1 Auton M....Moake J. (2007)
    7. WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan. (PubMed id 16407285)1 Allen J.M....Fitzgerald J. (2006)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64856 HGNC: 30910 AceView: WARP Ensembl:ENSG00000179403 euGenes: HUgn64856
    ECgene: VWA1 H-InvDB: VWA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for VWA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for VWA1 gene:
    Search GeneIP for patents involving VWA1

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