Variant: rs387906745 

    present in Gene: TEK
    present in Chromosome: 9
    Position on Chromosome: 27212764
    Alleles of this Variant: G/A

rs387906745 in TEK gene and VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL PMID 10369874 1999 Allelic and locus heterogeneity in inherited venous malformations.

PMID 8980225 1996 Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2.

PMID 19888299 2010 Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

PMID 19079259 2009 Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.