CFTR c.1011C>G ;(p.F337L)

Variant ID: 7-117180295-C-G

NM_000492.3(CFTR):c.1011C>G;(p.F337L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Long-range coupling between the extracellular gates and the intracellular ATP binding domains of multidrug resistance protein pumps and cystic fibrosis transmembrane conductance regulator channels.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Wei, Shipeng S; Roessler, Bryan C BC; Icyuz, Mert M; Chauvet, Sylvain S; Tao, Binli B; Hartman, John L JL; Kirk, Kevin L KL
Publication Date: 2016-03

Variant appearance in text: CFTR: F337L
PubMed Link: 26606940
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Nature Genetics
Schulze, Kornelius K; Imbeaud, Sandrine S; Letouzé, Eric E; Alexandrov, Ludmil B LB; Calderaro, Julien J; Rebouissou, Sandra S; Couchy, Gabrielle G; Meiller, Clément C; Shinde, Jayendra J; Soysouvanh, Frederic F; Calatayud, Anna-Line AL; Pinyol, Roser R; Pelletier, Laura L; Balabaud, Charles C; Laurent, Alexis A; Blanc, Jean-Frederic JF; Mazzaferro, Vincenzo V; Calvo, Fabien F; Villanueva, Augusto A; Nault, Jean-Charles JC; Bioulac-Sage, Paulette P; Stratton, Michael R MR; Llovet, Josep M JM; Zucman-Rossi, Jessica J
Publication Date: 2015-05

Variant appearance in text: CFTR: F337L
PubMed Link: 25822088
Variant Present in the following documents:
  • NIHMS62359-supplement-Table3.xlsx, sheet 1
View BVdb publication page