CFTR c.1000_1002delinsTGT ;(p.R334C)

Variant ID: 7-117180284-CGG-TGT

NM_000492.3(CFTR):c.1000_1002delinsTGT;(p.R334C)

This variant was identified in 28 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: R334C
PubMed Link: 34647973
Variant Present in the following documents:
  • Main text
  • JGP_202012625.pdf
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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: CFTR/MRP: R334C
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
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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: R334C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
  • JGP_201711946_TableS1.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: R334C
PubMed Link: 28640808
Variant Present in the following documents:
  • Main text
  • pcbi.1005594.pdf
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Murine and human CFTR exhibit different sensitivities to CFTR potentiators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Cui, Guiying G; McCarty, Nael A NA
Publication Date: 2015-10-01

Variant appearance in text: CFTR: R334C
PubMed Link: 26209275
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: R334C
PubMed Link: 25675504
Variant Present in the following documents:
  • Main text
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Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.

The Journal Of General Physiology
Cui, Guiying G; Rahman, Kazi S KS; Infield, Daniel T DT; Kuang, Christopher C; Prince, Chengyu Z CZ; McCarty, Nael A NA
Publication Date: 2014-08

Variant appearance in text: CFTR: R334C
PubMed Link: 25024266
Variant Present in the following documents:
  • Main text
  • JGP_201311122.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: R334C
PubMed Link: 24086355
Variant Present in the following documents:
  • Main text
  • pone.0074574.pdf
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Acute inhibition of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel by thyroid hormones involves multiple mechanisms.

American Journal Of Physiology. Cell Physiology
Cai, Zhiwei Z; Li, Hongyu H; Chen, Jeng-Haur JH; Sheppard, David N DN
Publication Date: 2013-10-15

Variant appearance in text: CFTR: R334C
PubMed Link: 23784545
Variant Present in the following documents:
  • Main text
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Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.

The Journal Of Biological Chemistry
Cui, Guiying G; Freeman, Cody S CS; Knotts, Taylor T; Prince, Chengyu Z CZ; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2013-07-12

Variant appearance in text: CFTR: R334C
PubMed Link: 23709221
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: R334C
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: R334C
PubMed Link: 22843683
Variant Present in the following documents:
  • Main text
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Thermal instability of ΔF508 cystic fibrosis transmembrane conductance regulator (CFTR) channel function: protection by single suppressor mutations and inhibiting channel activity.

Biochemistry
Liu, Xuehong X; O'Donnell, Nicolette N; Landstrom, Allison A; Skach, William R WR; Dawson, David C DC
Publication Date: 2012-06-26

Variant appearance in text: CFTR: R334C
PubMed Link: 22680785
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: R334C
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: R334C
PubMed Link: 22014307
Variant Present in the following documents:
  • Main text
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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: R334C
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: R334C
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: R334C
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
  • bi901314c.pdf
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Mutations at arginine 352 alter the pore architecture of CFTR.

The Journal Of Membrane Biology
Cui, Guiying G; Zhang, Zhi-Ren ZR; O'Brien, Andrew R W AR; Song, Binlin B; McCarty, Nael A NA
Publication Date: 2008-03

Variant appearance in text: CFTR: R334C
PubMed Link: 18421494
Variant Present in the following documents:
  • Main text
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The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Qu, Zhiqiang Z; Chien, Li-Ting LT; Cui, Yuanyuan Y; Hartzell, H Criss HC
Publication Date: 2006-05-17

Variant appearance in text: CFTR: R334C
PubMed Link: 16707793
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: R334C
PubMed Link: 15361410
Variant Present in the following documents:
  • Main text
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Mutation-induced blocker permeability and multiion block of the CFTR chloride channel pore.

The Journal Of General Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-12

Variant appearance in text: CFTR: R334C
PubMed Link: 14610019
Variant Present in the following documents:
  • Main text
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Voltage-dependent gating of the cystic fibrosis transmembrane conductance regulator Cl- channel.

The Journal Of General Physiology
Cai, Zhiwei Z; Scott-Ward, Toby S TS; Sheppard, David N DN
Publication Date: 2003-11

Variant appearance in text: CFTR: R334C
PubMed Link: 14581585
Variant Present in the following documents:
  • Main text
  • 200308921.pdf
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Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.

The Journal Of Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-06-01

Variant appearance in text: CFTR: R334C
PubMed Link: 12679372
Variant Present in the following documents:
  • Main text
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Mechanism of lonidamine inhibition of the CFTR chloride channel.

British Journal Of Pharmacology
Gong, Xiandi X; Burbridge, Susan M SM; Lewis, Angie C AC; Wong, Patrick Y D PY; Linsdell, Paul P
Publication Date: 2002-11

Variant appearance in text: CFTR: R334C
PubMed Link: 12411425
Variant Present in the following documents:
  • Main text
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CFTR: covalent modification of cysteine-substituted channels expressed in Xenopus oocytes shows that activation is due to the opening of channels resident in the plasma membrane.

The Journal Of General Physiology
Liu, X X; Smith, S S SS; Sun, F F; Dawson, D C DC
Publication Date: 2001-10

Variant appearance in text: CFTR: R334C
PubMed Link: 11585853
Variant Present in the following documents:
  • Main text
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CFTR: covalent and noncovalent modification suggests a role for fixed charges in anion conduction.

The Journal Of General Physiology
Smith, S S SS; Liu, X X; Zhang, Z R ZR; Sun, F F; Kriewall, T E TE; McCarty, N A NA; Dawson, D C DC
Publication Date: 2001-10

Variant appearance in text: CFTR: R334C
PubMed Link: 11585852
Variant Present in the following documents:
  • Main text
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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: R334C
PubMed Link: 9089437
Variant Present in the following documents:
  • 7357.pdf
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