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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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