CFTR c.3921T>G ;(p.Y1307*)

Variant ID: 7-117292943-T-G

NM_000492.3(CFTR):c.3921T>G;(p.Y1307*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing.

Molecular Therapy. Methods & Clinical Development
Erwood, Steven S; Laselva, Onofrio O; Bily, Teija M I TMI; Brewer, Reid A RA; Rutherford, Alexandra H AH; Bear, Christine E CE; Ivakine, Evgueni A EA
Publication Date: 2020-06-12

Variant appearance in text: CFTR: Y1307X
PubMed Link: 32490033
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product.

The Journal Of Biological Chemistry
Haggie, Peter M PM; Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Xu, Haijin H; Avramescu, Radu G RG; Perdomo, Doranda D; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Lukacs, Gergely L GL; Verkman, Alan S AS
Publication Date: 2017-01-20

Variant appearance in text: CFTR: Y1307X
PubMed Link: 27895116
Variant Present in the following documents:
  • Main text
View BVdb publication page