CFTR c.3838_3840delinsTGT ;(p.Q1280C)

Variant ID: 7-117282612-CAA-TGT

NM_000492.3(CFTR):c.3838_3840delinsTGT;(p.Q1280C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
He, Lihua L; Kota, Pradeep P; Aleksandrov, Andrei A AA; Cui, Liying L; Jensen, Tim T; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2013-02

Variant appearance in text: CFTR: Q1280C
PubMed Link: 23104983
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulatory insertion removal restores maturation, stability and function of DeltaF508 CFTR.

Journal Of Molecular Biology
Aleksandrov, Andrei A AA; Kota, Pradeep P; Aleksandrov, Luba A LA; He, Lihua L; Jensen, Tim T; Cui, Liying L; Gentzsch, Martina M; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2010-08-13

Variant appearance in text: CFTR: Q1280C
PubMed Link: 20561529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Restoration of domain folding and interdomain assembly by second-site suppressors of the DeltaF508 mutation in CFTR.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
He, Lihua L; Aleksandrov, Luba A LA; Cui, Liying L; Jensen, Timothy J TJ; Nesbitt, Kenneth L KL; Riordan, John R JR
Publication Date: 2010-08

Variant appearance in text: CFTR: Q1280C
PubMed Link: 20233947
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Serohijos, Adrian W R AW; Hegedus, Tamás T; Aleksandrov, Andrei A AA; He, Lihua L; Cui, Liying L; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2008-03-04

Variant appearance in text: CFTR: Q1280C
PubMed Link: 18305154
Variant Present in the following documents:
  • Main text
View BVdb publication page