CFTR c.1045_1047delinsTGT ;(p.A349C)

Variant ID: 7-117180329-GCG-TGT

NM_000492.3(CFTR):c.1045_1047delinsTGT;(p.A349C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: A349C
PubMed Link: 29581173
Variant Present in the following documents:
  • JGP_201711946_TableS1.pdf
View BVdb publication page



Metal bridges illuminate transmembrane domain movements during gating of the cystic fibrosis transmembrane conductance regulator chloride channel.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2014-10-10

Variant appearance in text: CFTR: A349C
PubMed Link: 25143385
Variant Present in the following documents:
  • Main text
View BVdb publication page



Changes in accessibility of cytoplasmic substances to the pore associated with activation of the cystic fibrosis transmembrane conductance regulator chloride channel.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2010-10-15

Variant appearance in text: CFTR: A349C
PubMed Link: 20675380
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.

Biochemistry
Alexander, Christopher C; Ivetac, Anthony A; Liu, Xuehong X; Norimatsu, Yohei Y; Serrano, Jose R JR; Landstrom, Allison A; Sansom, Mark M; Dawson, David C DC
Publication Date: 2009-10-27

Variant appearance in text: CFTR: A349C
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
View BVdb publication page