CFTR c.829T>A ;(p.W277R)

Variant ID: 7-117176687-T-A

NM_000492.3(CFTR):c.829T>A;(p.W277R)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Mechanism-based corrector combination restores ΔF508-CFTR folding and function.

Nature Chemical Biology
Okiyoneda, Tsukasa T; Veit, Guido G; Dekkers, Johanna F JF; Bagdany, Miklos M; Soya, Naoto N; Xu, Haijin H; Roldan, Ariel A; Verkman, Alan S AS; Kurth, Mark M; Simon, Agnes A; Hegedus, Tamas T; Beekman, Jeffrey M JM; Lukacs, Gergely L GL
Publication Date: 2013-07

Variant appearance in text: CFTR: W277R
PubMed Link: 23666117
Variant Present in the following documents:
  • Main text
View BVdb publication page