Literature summary for 2.7.10.1 extracted from

Calvert, J.T.; Riney, T.J.; Kontos, C.D.; Cha, E.H.; Prieto, V.G.; Shea, C.R.; Berg, J.N.; Nevin, N.C.; Simpson, S.A.; Pasyk, K.A.; Speer, M.C.; Peters, K.G.; Marchuk, D.A.
Allelic and locus heterogeneity in inherited venous malformations (1999), Hum. Mol. Genet., 8, 1279-1289.

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Protein Variants

Protein Variants	Comment	Organism
additional information	R849W or the Y897S: the receptors containing either mutation show ligand-independent hyperphosphorylation, resulting in dominantly inherited venous malformations	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q02763	-	-

Synonyms

Synonyms	Comment	Organism
angiopoietin 1 receptor	-	Homo sapiens
Tie2	-	Homo sapiens

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Release 2023.1 (January 2023)