CFTR c.2087A>G ;(p.K696R)

Variant ID: 7-117232308-A-G

NM_000492.3(CFTR):c.2087A>G;(p.K696R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: rs397508340
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype.

The Journal Of Molecular Diagnostics : Jmd
Fresquet, Fleur F; Clement, Romain R; Norez, Caroline C; Sterlin, Adélaïde A; Melin, Patricia P; Becq, Frédéric F; Kitzis, Alain A; Thoreau, Vincent V; Bilan, Frédéric F
Publication Date: 2011-09

Variant appearance in text: CFTR: Lys696Arg
PubMed Link: 21708286
Variant Present in the following documents:
  • Main text
View BVdb publication page