CFTR c.3845G>T ;(p.W1282L)

Variant ID: 7-117282619-G-T

NM_000492.3(CFTR):c.3845G>T;(p.W1282L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Efficient suppression of endogenous CFTR nonsense mutations using anticodon-engineered transfer RNAs.

Molecular Therapy. Nucleic Acids
Ko, Wooree W; Porter, Joseph J JJ; Sipple, Matthew T MT; Edwards, Katherine M KM; Lueck, John D JD
Publication Date: 2022-06-14

Variant appearance in text: CFTR: W1282L
PubMed Link: 35664697
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Scientific Reports
Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Rivera, Amber A AA; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Haggie, Peter M PM; Verkman, Alan S AS
Publication Date: 2019-11-27

Variant appearance in text: CFTR: W1282L
PubMed Link: 31776420
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_54158.pdf
View BVdb publication page



Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.

Human Molecular Genetics
Xue, Xiaojiao X; Mutyam, Venkateshwar V; Thakerar, Amita A; Mobley, James J; Bridges, Robert J RJ; Rowe, Steven M SM; Keeling, Kim M KM; Bedwell, David M DM
Publication Date: 2017-08-15

Variant appearance in text: CFTR: W1282L
PubMed Link: 28575328
Variant Present in the following documents:
  • Main text
View BVdb publication page