CFTR c.1042_1044delinsTGT ;(p.M348C)

Variant ID: 7-117180326-ATG-TGT

NM_000492.3(CFTR):c.1042_1044delinsTGT;(p.M348C)

This variant was identified in 12 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: M348C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
  • JGP_201711946_TableS1.pdf
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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: M348C
PubMed Link: 25143385
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: M348C
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: M348C
PubMed Link: 23223629
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: M348C
PubMed Link: 22352759
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: M348C
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: M348C
PubMed Link: 21746847
Variant Present in the following documents:
  • Main text
  • JGP_201110605.pdf
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Benzbromarone stabilizes ΔF508 CFTR at the cell surface.

Biochemistry
Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM
Publication Date: 2011-05-31

Variant appearance in text: CFTR: M348C
PubMed Link: 21520952
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: M348C
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: M348C
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: M348C
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
  • bi901314c.pdf
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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: M348C
PubMed Link: 16417523
Variant Present in the following documents:
  • Main text
View BVdb publication page