CFTR c.2125_2127delinsAAC ;(p.R709N)

Variant ID: 7-117232346-CGA-AAC

NM_000492.3(CFTR):c.2125_2127delinsAAC;(p.R709N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Journal Of Medical Case Reports
Dell'Edera, Domenico D; Benedetto, Michele M; Gadaleta, Gemma G; Carone, Domenico D; Salvatore, Donatello D; Angione, Antonella A; Gallo, Massimiliano M; Milo, Michele M; Pisaturo, Maria Laura ML; Di Pierro, Giuseppe G; Mazzone, Eleonora E; Epifania, Annunziata Anna AA
Publication Date: 2014-10-10

Variant appearance in text: CFTR: R709N
PubMed Link: 25304080
Variant Present in the following documents:
  • Main text
  • 1752-1947-8-339.pdf
View BVdb publication page



CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices.

Nature Structural & Molecular Biology
Baker, Jennifer M R JM; Hudson, Rhea P RP; Kanelis, Voula V; Choy, Wing-Yiu WY; Thibodeau, Patrick H PH; Thomas, Philip J PJ; Forman-Kay, Julie D JD
Publication Date: 2007-08

Variant appearance in text: CFTR: R709N
PubMed Link: 17660831
Variant Present in the following documents:
  • Main text
View BVdb publication page