CFTR c.1030_1031delinsTG ;(p.I344C)

Variant ID: 7-117180314-AT-TG

NM_000492.3(CFTR):c.1030_1031delinsTG;(p.I344C)

This variant was identified in 15 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: I344C
PubMed Link: 29581173
Variant Present in the following documents:
  • JGP_201711946_TableS1.pdf
  • JGP_201711946.pdf
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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: I344C
PubMed Link: 25675504
Variant Present in the following documents:
  • Main text
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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: I344C
PubMed Link: 25143385
Variant Present in the following documents:
  • Main text
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Cystic fibrosis transmembrane conductance regulator chloride channel blockers: Pharmacological, biophysical and physiological relevance.

World Journal Of Biological Chemistry
Linsdell, Paul P
Publication Date: 2014-02-26

Variant appearance in text: CFTR: I344C
PubMed Link: 24600512
Variant Present in the following documents:
  • Main text
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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: I344C
PubMed Link: 23442957
Variant Present in the following documents:
  • Main text
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Nonequilibrium gating of CFTR on an equilibrium theme.

Physiology (Bethesda, Md.)
Jih, Kang-Yang KY; Hwang, Tzyh-Chang TC
Publication Date: 2012-12

Variant appearance in text: CFTR: I344C
PubMed Link: 23223629
Variant Present in the following documents:
  • Main text
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Tuning of CFTR chloride channel function by location of positive charges within the pore.

Biophysical Journal
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-10-17

Variant appearance in text: CFTR: I344C
PubMed Link: 23083715
Variant Present in the following documents:
  • Main text
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Nonintegral stoichiometry in CFTR gating revealed by a pore-lining mutation.

The Journal Of General Physiology
Jih, Kang-Yang KY; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2012-10

Variant appearance in text: CFTR: I344C
PubMed Link: 22966014
Variant Present in the following documents:
  • Main text
  • JGP_201210834.pdf
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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: I344C
PubMed Link: 22303012
Variant Present in the following documents:
  • Main text
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Structural basis for the channel function of a degraded ABC transporter, CFTR (ABCC7).

The Journal Of General Physiology
Bai, Yonghong Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2011-11

Variant appearance in text: CFTR: I344C
PubMed Link: 22042986
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: I344C
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: I344C
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: I344C
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: I344C
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: I344C
PubMed Link: 9089437
Variant Present in the following documents:
  • Main text
  • 7357.pdf
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