TEK c.2564A>G ;(p.K855R)

Variant ID: 9-27206779-A-G

NM_000459.3(TEK):c.2564A>G;(p.K855R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Common and specific effects of TIE2 mutations causing venous malformations.

Human Molecular Genetics
Nätynki, Marjut M; Kangas, Jaakko J; Miinalainen, Ilkka I; Sormunen, Raija R; Pietilä, Riikka R; Soblet, Julie J; Boon, Laurence M LM; Vikkula, Miikka M; Limaye, Nisha N; Eklund, Lauri L
Publication Date: 2015-11-15

Variant appearance in text: TIE2: K855R
PubMed Link: 26319232
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple angiopoietin recombinant proteins activate the Tie1 receptor tyrosine kinase and promote its interaction with Tie2.

The Journal Of Cell Biology
Saharinen, Pipsa P; Kerkelä, Katja K; Ekman, Niklas N; Marron, Marie M; Brindle, Nicholas N; Lee, Gyun Min GM; Augustin, Hellmut H; Koh, Gou Young GY; Alitalo, Kari K
Publication Date: 2005-04-25

Variant appearance in text: TIE2: K855R
PubMed Link: 15851516
Variant Present in the following documents:
  • 200411105.pdf
View BVdb publication page