The VWF gene homepage

General information
Gene symbol VWF
Gene name von Willebrand factor
Chromosome 12
Chromosomal band p13.31
Imprinted Unknown
Genomic reference NG_009072.2
Transcript reference NM_000552.3
Exon/intron information NM_000552.3 exon/intron table
Associated with diseases VWD, VWD1, VWD2, VWD3
Citation reference(s) PubMed: Hampshire & Goodeve, 2011
PubMed: McVey et al., 2020
Refseq URL Genomic reference sequence
Curators (1) Daniel J Hampshire
Total number of public variants reported 1647
Unique public DNA variants reported 722
Individuals with public variants 1312
Hidden variants 18
Notes This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.
Date created October 01, 2010
Date last updated April 19, 2024
Version VWF:240419

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000552.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/VWF
External URL EAHAD Coagulation Factor Variant Databases
EAHAD VWF Variant Database
HGNC 12726
Entrez Gene 7450
PubMed articles VWF
OMIM - Gene 613160
OMIM - Diseases VWD1 (von Willebrand disease, type 1 (VWD-1))
VWD2 (von Willebrand disease, type 2 (VWD-2))
VWD3 (von Willebrand disease, type 3 (VWD-3))
HGMD VWF
GeneCards VWF
GeneTests VWF
Orphanet VWF


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022703 12 von Willebrand factor NM_000552.3 NP_000543.2 1647


Copyright & disclaimer
The European Association for Haemophilia and Allied Disorders Coagulation Factor Variant Databases (EAHAD-CFDB) are maintained and provided as a public service for the clinical, diagnostic and coagulation factor research communities. All individuals accessing and using the information contained in these variant databases managed by EAHAD-CFDB explicitly agree to abide by the database policy.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.