F2 c.397A>T ;(p.R133W)

Variant ID: 11-46744810-A-T

NM_000506.3(F2):c.397A>T;(p.R133W)

This variant was identified in 2 publications

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: F2: Arg133Trp
PubMed Link: 31510873
Variant Present in the following documents:
  • JAH3-8-e012875.pdf
View BVdb publication page



Challenges for molecular diagnosis of familial early-onset diabetes in unexplored populations.

Iranian Journal Of Public Health
Amara, Abdelbasset A; Chadli-Chaieb, Molka M; Chaieb, Larbi L; Saad, Ali A; Gribaa, Moez M
Publication Date: 2014-07

Variant appearance in text: F2: R133W
PubMed Link: 25909071
Variant Present in the following documents:
  • Main text
  • IJPH-43-1011.pdf
View BVdb publication page