CFTR c.1051_1052delinsTG ;(p.T351C)

Variant ID: 7-117180335-AC-TG

NM_000492.3(CFTR):c.1051_1052delinsTG;(p.T351C)

This variant was identified in 7 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: T351C
PubMed Link: 29581173
Variant Present in the following documents:
  • JGP_201711946_TableS1.pdf
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator: a molecular model defines the architecture of the anion conduction path and locates a "bottleneck" in the pore.

Biochemistry
Norimatsu, Yohei Y; Ivetac, Anthony A; Alexander, Christopher C; Kirkham, John J; O'Donnell, Nicolette N; Dawson, David C DC; Sansom, Mark S P MS
Publication Date: 2012-03-20

Variant appearance in text: CFTR: T351C
PubMed Link: 22352759
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dual roles of the sixth transmembrane segment of the CFTR chloride channel in gating and permeation.

The Journal Of General Physiology
Bai, Yonghong Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2010-09

Variant appearance in text: CFTR: T351C
PubMed Link: 20805575
Variant Present in the following documents:
  • Main text
  • JGP_201010480.pdf
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: T351C
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: T351C
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
  • bi901314c.pdf
View BVdb publication page



The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.

The Biochemical Journal
Loo, Tip W TW; Bartlett, M Claire MC; Wang, Ying Y; Clarke, David M DM
Publication Date: 2006-05-01

Variant appearance in text: CFTR: T351C
PubMed Link: 16417523
Variant Present in the following documents:
  • Main text
View BVdb publication page



Locating the anion-selectivity filter of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel.

The Journal Of General Physiology
Cheung, M M; Akabas, M H MH
Publication Date: 1997-03

Variant appearance in text: CFTR: T351C
PubMed Link: 9089437
Variant Present in the following documents:
  • Main text
  • 7357.pdf
View BVdb publication page