CFTR c.1012_1013delinsTG ;(p.T338C)

Variant ID: 7-117180296-AC-TG

NM_000492.3(CFTR):c.1012_1013delinsTG;(p.T338C)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


The molecular evolution of function in the CFTR chloride channel.

The Journal Of General Physiology
Infield, Daniel T DT; Strickland, Kerry M KM; Gaggar, Amit A; McCarty, Nael A NA
Publication Date: 2021-12-06

Variant appearance in text: CFTR: T338C
PubMed Link: 34647973
Variant Present in the following documents:
  • JGP_202012625.pdf
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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: T338C
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: T338C
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: T338C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946_TableS1.pdf
  • JGP_201711946.pdf
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Transmembrane helical interactions in the CFTR channel pore.

Plos Computational Biology
Das, Jhuma J; Aleksandrov, Andrei A AA; Cui, Liying L; He, Lihua L; Riordan, John R JR; Dokholyan, Nikolay V NV
Publication Date: 2017-06

Variant appearance in text: CFTR: T338C
PubMed Link: 28640808
Variant Present in the following documents:
  • Main text
  • pcbi.1005594.pdf
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Impact of posttranslational modifications of engineered cysteines on the substituted cysteine accessibility method: evidence for glutathionylation.

American Journal Of Physiology. Cell Physiology
Zhao, Rongbao R; Najmi, Mitra M; Aluri, Srinivas S; Goldman, I David ID
Publication Date: 2017-04-01

Variant appearance in text: CFTR: T338C
PubMed Link: 28122733
Variant Present in the following documents:
  • Main text
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Spatial positioning of CFTR's pore-lining residues affirms an asymmetrical contribution of transmembrane segments to the anion permeation pathway.

The Journal Of General Physiology
Gao, Xiaolong X; Hwang, Tzyh-Chang TC
Publication Date: 2016-05

Variant appearance in text: CFTR: T338C
PubMed Link: 27114613
Variant Present in the following documents:
  • JGP_201511557.pdf
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Positioning of extracellular loop 1 affects pore gating of the cystic fibrosis transmembrane conductance regulator.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Infield, Daniel T DT; Cui, Guiying G; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2016-03-01

Variant appearance in text: CFTR: T338C
PubMed Link: 26684250
Variant Present in the following documents:
  • Main text
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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: T338C
PubMed Link: 25675504
Variant Present in the following documents:
  • Main text
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Cystic fibrosis transmembrane conductance regulator (CFTR) potentiators protect G551D but not ΔF508 CFTR from thermal instability.

Biochemistry
Liu, Xuehong X; Dawson, David C DC
Publication Date: 2014-09-09

Variant appearance in text: CFTR: T338C
PubMed Link: 25148434
Variant Present in the following documents:
  • bi501007v.pdf
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Modeling the conformational changes underlying channel opening in CFTR.

Plos One
Rahman, Kazi S KS; Cui, Guiying G; Harvey, Stephen C SC; McCarty, Nael A NA
Publication Date: 2013

Variant appearance in text: CFTR: T338C
PubMed Link: 24086355
Variant Present in the following documents:
  • pone.0074574.pdf
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Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.

Biophysical Journal
Gao, Xiaolong X; Bai, Yonghong Y; Hwang, Tzyh-Chang TC
Publication Date: 2013-02-19

Variant appearance in text: CFTR: T338C
PubMed Link: 23442957
Variant Present in the following documents:
  • Main text
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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: T338C
PubMed Link: 22923500
Variant Present in the following documents:
  • Main text
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Relative movements of transmembrane regions at the outer mouth of the cystic fibrosis transmembrane conductance regulator channel pore during channel gating.

The Journal Of Biological Chemistry
Wang, Wuyang W; Linsdell, Paul P
Publication Date: 2012-09-14

Variant appearance in text: CFTR: T338C
PubMed Link: 22843683
Variant Present in the following documents:
  • Main text
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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: T338C
PubMed Link: 22352759
Variant Present in the following documents:
  • Main text
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Alternating access to the transmembrane domain of the ATP-binding cassette protein cystic fibrosis transmembrane conductance regulator (ABCC7).

The Journal Of Biological Chemistry
Wang, Wuyang W; Linsdell, Paul P
Publication Date: 2012-03-23

Variant appearance in text: CFTR: T338C
PubMed Link: 22303012
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: T338C
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: T338C
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: T338C
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: T338C
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: T338C
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
  • bi901314c.pdf
  • bi901314c_si_001.pdf
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CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore.

Biophysical Journal
Serrano, José R JR; Liu, Xuehong X; Borg, Erik R ER; Alexander, Christopher S CS; Shaw, C Frank CF; Dawson, David C DC
Publication Date: 2006-09-01

Variant appearance in text: CFTR: T338C
PubMed Link: 16766608
Variant Present in the following documents:
  • Main text
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CFTR: a cysteine at position 338 in TM6 senses a positive electrostatic potential in the pore.

Biophysical Journal
Liu, Xuehong X; Zhang, Zhi-Ren ZR; Fuller, Matthew D MD; Billingsley, Joshua J; McCarty, Nael A NA; Dawson, David C DC
Publication Date: 2004-12

Variant appearance in text: CFTR: T338C
PubMed Link: 15361410
Variant Present in the following documents:
  • Main text
View BVdb publication page