Details for Gene VWF

GENE NAME VWF
CHROMOSOME 12
ENSEMBL ID ENSG00000110799
ENTREZ ID 7450
UNIPROT ACCESSION NUMBER P04275
GO MOLECULAR FUNCTION protease binding; protein binding; identical protein binding; protein N-terminus binding; chaperone binding; immunoglobulin binding; integrin binding; collagen binding; extracellular matrix structural constituent
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-114608; R-HSA-216083; R-HSA-5674135; hsa04611; R-HSA-6802949; hsa04510; R-HSA-354192; R-HSA-9671793; hsa04151; R-HSA-1643685; R-HSA-9662001; R-HSA-9672393; R-HSA-5683057; R-HSA-9656223; hsa05165; R-HSA-6802948; R-HSA-76005; hsa04512; hsa04613; R-HSA-162582; R-HSA-372708; hsa05171; R-HSA-140877; R-HSA-9649948; R-HSA-9672391; R-HSA-5684996; R-HSA-6802952; R-HSA-140837; R-HSA-6802946; R-HSA-5663202; R-HSA-5673001; R-HSA-6802955; R-HSA-9651496; R-HSA-1474244; R-HSA-6802957; R-HSA-109582; R-HSA-430116; R-HSA-75892; R-HSA-76009; R-HSA-76002; hsa04610; R-HSA-354194
2 combinations linked to VWF OLI1051; OLI1044
3 variants linked to VWF VWF:c.4517C>T, p.Ser1506Leu; VWF:c.4508T>C, p.Leu1503Pro; VWF:c.5641G>A, p.Asp1881Asn
1 disease linked to VWF Primary ovarian failure
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