CELSR2 c.6509C>T ;(p.S2170F)

Variant ID: 1-109811508-C-T

NM_001408.2(CELSR2):c.6509C>T;(p.S2170F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Journal Of The American Heart Association
Calvete, Oriol O; Garcia-Pavia, Pablo P; Domínguez, Fernando F; Mosteiro, Lluc L; Pérez-Cabornero, Lucía L; Cantalapiedra, Diego D; Zorio, Esther E; Ramón Y Cajal, Teresa T; Crespo-Leiro, Maria G MG; Teulé, Álex Á; Lázaro, Conxi C; Morente, Manuel M MM; Urioste, Miguel M; Benitez, Javier J
Publication Date: 2019-09-17

Variant appearance in text: CELSR2: Ser2170Phe
PubMed Link: 31510873
Variant Present in the following documents:
  • JAH3-8-e012875.pdf
View BVdb publication page