CFTR c.1478A>G ;(p.Q493R)

Variant ID: 7-117199603-A-G

NM_000492.3(CFTR):c.1478A>G;(p.Q493R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Molecular dynamics studies reveal structural and functional features of the SARS-CoV-2 spike protein.

Bioessays : News And Reviews In Molecular, Cellular And Developmental Biology
Pipitò, Ludovico L; Rujan, Roxana-Maria RM; Reynolds, Christopher A CA; Deganutti, Giuseppe G
Publication Date: 2022-09

Variant appearance in text: CFTR: Q493R
PubMed Link: 35843871
Variant Present in the following documents:
  • Main text
  • BIES-9999-0.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: CFTR: 1478A>G; Gln493Arg; rs397508214
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine
Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M
Publication Date: 2019-08

Variant appearance in text: CFTR: 1478A>G; Gln493Arg
PubMed Link: 31245908
Variant Present in the following documents:
  • Main text
  • MGG3-7-e696.pdf
View BVdb publication page



What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Orphanet Journal Of Rare Diseases
De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A
Publication Date: 2017-08-22

Variant appearance in text: CFTR: Q493R
PubMed Link: 28830496
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Montiel-Gonzalez, Maria Fernanda MF; Vallecillo-Viejo, Isabel I; Yudowski, Guillermo A GA; Rosenthal, Joshua J C JJ
Publication Date: 2013-11-05

Variant appearance in text: CFTR: Q493R
PubMed Link: 24108353
Variant Present in the following documents:
  • Main text
View BVdb publication page