CFTR c.1546A>G ;(p.R516G)

Variant ID: 7-117199671-A-G

NM_000492.3(CFTR):c.1546A>G;(p.R516G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Image-based β-adrenergic sweat rate assay captures minimal cystic fibrosis transmembrane conductance regulator function.

Pediatric Research
Salinas, Danieli Barino DB; Peng, Yu-Hao YH; Horwich, Brian B; Wee, Choo Phei CP; Frisbee, Eric E; Maarek, Jean-Michel JM
Publication Date: 2020-01

Variant appearance in text: CFTR: R516G
PubMed Link: 31344706
Variant Present in the following documents:
  • Main text
  • nihms-1534865.pdf
View BVdb publication page



Combination probes with intercalating anchors and proximal fluorophores for DNA and RNA detection.

Nucleic Acids Research
Qiu, Jieqiong J; Wilson, Adam A; El-Sagheer, Afaf H AH; Brown, Tom T
Publication Date: 2016-09-30

Variant appearance in text: CFTR: R516G
PubMed Link: 27369379
Variant Present in the following documents:
  • Main text
  • gkw579.pdf
View BVdb publication page



A highly fluorescent DNA toolkit: synthesis and properties of oligonucleotides containing new Cy3, Cy5 and Cy3B monomers.

Nucleic Acids Research
Hall, Lucy M LM; Gerowska, Marta M; Brown, Tom T
Publication Date: 2012-08

Variant appearance in text: CFTR: R516G
PubMed Link: 22495935
Variant Present in the following documents:
  • Main text
  • gks303.pdf
View BVdb publication page