CFTR c.244A>G ;(p.M82V)

Variant ID: 7-117149167-A-G

NM_000492.3(CFTR):c.244A>G;(p.M82V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic landscape of non-small cell lung cancer in smokers and never-smokers.

Cell
Govindan, Ramaswamy R; Ding, Li L; Griffith, Malachi M; Subramanian, Janakiraman J; Dees, Nathan D ND; Kanchi, Krishna L KL; Maher, Christopher A CA; Fulton, Robert R; Fulton, Lucinda L; Wallis, John J; Chen, Ken K; Walker, Jason J; McDonald, Sandra S; Bose, Ron R; Ornitz, David D; Xiong, Donghai D; You, Ming M; Dooling, David J DJ; Watson, Mark M; Mardis, Elaine R ER; Wilson, Richard K RK
Publication Date: 2012-09-14

Variant appearance in text: CFTR: M82V
PubMed Link: 22980976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology
Ramalho, Anabela S AS; Lewandowska, Marzena A MA; Farinha, Carlos M CM; Mendes, Filipa F; Gonçalves, Juan J; Barreto, Celeste C; Harris, Ann A; Amaral, Margarida D MD
Publication Date: 2009

Variant appearance in text: CFTR: M82V
PubMed Link: 19910674
Variant Present in the following documents:
  • Main text
View BVdb publication page