CFTR c.1690_1692delinsTGT ;(p.K564C)

Variant ID: 7-117230417-AAA-TGT

NM_000492.3(CFTR):c.1690_1692delinsTGT;(p.K564C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: K564C
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: K564C
PubMed Link: 18305154
Variant Present in the following documents:
  • Main text
View BVdb publication page