Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64856
MIM: 611901
HGNC: 30910
Ensembl: ENSG00000179403
Variants:
dbSNP: 64856
ClinVar: 64856
TCGA: ENSG00000179403
COSMIC: VWA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000179403 | ENST00000338660 | Q6PCB0 |
| ENSG00000179403 | ENST00000471398 | J3QRR0 |
| ENSG00000179403 | ENST00000476993 | Q6PCB0 |
| ENSG00000179403 | ENST00000495558 | J3QLP3 |
Expression (GTEx)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA445174 | Osteoarthritis | Disease | MultilinkAnnotation | associated | 26309605 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33459760 | 2021 | Bi-allelic truncating mutations in VWA1 cause neuromyopathy. | 9 |
| 33459760 | 2021 | Bi-allelic truncating mutations in VWA1 cause neuromyopathy. | 9 |
| 26213126 | 2015 | Von Willebrand factor-A1 domain binds platelet glycoprotein Ibα in multiple states with distinctive force-dependent dissociation kinetics. | 32 |
| 26213126 | 2015 | Von Willebrand factor-A1 domain binds platelet glycoprotein Ibα in multiple states with distinctive force-dependent dissociation kinetics. | 32 |
| 23523902 | 2013 | The matrilin-3 VWA1 domain modulates interleukin-6 release from primary human chondrocytes. | 3 |
| 23523902 | 2013 | The matrilin-3 VWA1 domain modulates interleukin-6 release from primary human chondrocytes. | 3 |
| 23300779 | 2012 | WARP interacts with collagen VI-containing microfibrils in the pericellular matrix of human chondrocytes. | 12 |
| 23300779 | 2012 | WARP interacts with collagen VI-containing microfibrils in the pericellular matrix of human chondrocytes. | 12 |
| 20971096 | 2011 | Immunocytochemical distribution of WARP (von Willebrand A domain-related protein) in the inner ear. | 5 |
| 20971096 | 2011 | Immunocytochemical distribution of WARP (von Willebrand A domain-related protein) in the inner ear. | 5 |
| 17187823 | 2007 | Conformational stability and domain unfolding of the Von Willebrand factor A domains. | 46 |
| 17187823 | 2007 | Conformational stability and domain unfolding of the Von Willebrand factor A domains. | 46 |
| 16407285 | 2006 | WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan. | 18 |
| 16407285 | 2006 | WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan. | 18 |
| 14527666 | 2003 | Is there an evolutionary relationship between WARP (von Willebrand factor A-domain-related protein) and the FACIT and FACIT-like collagens? | 1 |
Citation
Dessen P
VWA1 (von Willebrand factor A domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75661/vwa1-(von-willebrand-factor-a-domain-containing-1)
