CFTR c.1010T>G ;(p.F337C)

Variant ID: 7-117180294-T-G

NM_000492.3(CFTR):c.1010T>G;(p.F337C)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Strategies for cystic fibrosis transmembrane conductance regulator inhibition: from molecular mechanisms to treatment for secretory diarrhoeas.

Febs Letters
de Jonge, Hugo R HR; Ardelean, Maria C MC; Bijvelds, Marcel J C MJC; Vergani, Paola P
Publication Date: 2020-12

Variant appearance in text: CFTR: F337C
PubMed Link: 33113586
Variant Present in the following documents:
  • Main text
  • FEB2-594-4085.pdf
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Molecular structure of the ATP-bound, phosphorylated human CFTR.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Zhe Z; Liu, Fangyu F; Chen, Jue J
Publication Date: 2018-12-11

Variant appearance in text: CFTR: F337C
PubMed Link: 30459277
Variant Present in the following documents:
  • Main text
  • pnas.201815287.pdf
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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: F337C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
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Long-range coupling between the extracellular gates and the intracellular ATP binding domains of multidrug resistance protein pumps and cystic fibrosis transmembrane conductance regulator channels.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Wei, Shipeng S; Roessler, Bryan C BC; Icyuz, Mert M; Chauvet, Sylvain S; Tao, Binli B; Hartman, John L JL; Kirk, Kevin L KL
Publication Date: 2016-03

Variant appearance in text: CFTR: F337C
PubMed Link: 26606940
Variant Present in the following documents:
  • Main text
View BVdb publication page



Localizing a gate in CFTR.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gao, Xiaolong X; Hwang, Tzyh-Chang TC
Publication Date: 2015-02-24

Variant appearance in text: CFTR: F337C
PubMed Link: 25675504
Variant Present in the following documents:
  • Main text
View BVdb publication page



Locating a plausible binding site for an open-channel blocker, GlyH-101, in the pore of the cystic fibrosis transmembrane conductance regulator.

Molecular Pharmacology
Norimatsu, Yohei Y; Ivetac, Anthony A; Alexander, Christopher C; O'Donnell, Nicolette N; Frye, Leah L; Sansom, Mark S P MS; Dawson, David C DC
Publication Date: 2012-12

Variant appearance in text: CFTR: F337C
PubMed Link: 22923500
Variant Present in the following documents:
  • Main text
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: F337C
PubMed Link: 22352759
Variant Present in the following documents:
  • Main text
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Cystic fibrosis transmembrane conductance regulator: temperature-dependent cysteine reactivity suggests different stable conformers of the conduction pathway.

Biochemistry
Liu, Xuehong X; Dawson, David C DC
Publication Date: 2011-11-29

Variant appearance in text: CFTR: F337C
PubMed Link: 22014307
Variant Present in the following documents:
  • Main text
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Alignment of transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

The Journal Of General Physiology
Wang, Wuyang W; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2011-08

Variant appearance in text: CFTR: F337C
PubMed Link: 21746847
Variant Present in the following documents:
  • Main text
  • JGP_201110605.pdf
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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: F337C
PubMed Link: 20805575
Variant Present in the following documents:
  • Main text
  • JGP_201010480.pdf
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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: F337C
PubMed Link: 20675380
Variant Present in the following documents:
  • Main text
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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: F337C
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
  • bi901314c.pdf
  • bi901314c_si_001.pdf
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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: F337C
PubMed Link: 9089437
Variant Present in the following documents:
  • 7357.pdf
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