CFTR c.907_909delinsTGT ;(p.R303C)

Variant ID: 7-117180191-AGA-TGT

NM_000492.3(CFTR):c.907_909delinsTGT;(p.R303C)

This variant was identified in 8 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: R303C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
  • JGP_201711946_TableS1.pdf
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CFTR gating: Invisible transitions made visible.

The Journal Of General Physiology
Csanády, László L
Publication Date: 2017-04-03

Variant appearance in text: CFTR: R303C
PubMed Link: 28264886
Variant Present in the following documents:
  • Main text
  • JGP_201711777.pdf
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Electrostatic tuning of the pre- and post-hydrolytic open states in CFTR.

The Journal Of General Physiology
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2017-03-06

Variant appearance in text: CFTR: R303C
PubMed Link: 28242630
Variant Present in the following documents:
  • Main text
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The Fifth Transmembrane Segment of Cystic Fibrosis Transmembrane Conductance Regulator Contributes to Its Anion Permeation Pathway.

Biochemistry
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2015-06-23

Variant appearance in text: CFTR: R303C
PubMed Link: 26024338
Variant Present in the following documents:
  • Main text
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Functional Architecture of the Cytoplasmic Entrance to the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Pore.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2015-06-19

Variant appearance in text: CFTR: R303C
PubMed Link: 25944907
Variant Present in the following documents:
  • Main text
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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: R303C
PubMed Link: 20675380
Variant Present in the following documents:
  • Main text
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Cysteine-independent inhibition of the CFTR chloride channel by the cysteine-reactive reagent sodium (2-sulphonatoethyl) methanethiosulphonate.

British Journal Of Pharmacology
Li, M-S MS; Demsey, A F A AF; Qi, J J; Linsdell, P P
Publication Date: 2009-07

Variant appearance in text: CFTR: R303C
PubMed Link: 19466983
Variant Present in the following documents:
  • Main text
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Positive charges at the intracellular mouth of the pore regulate anion conduction in the CFTR chloride channel.

The Journal Of General Physiology
Aubin, Chantal N St CN; Linsdell, Paul P
Publication Date: 2006-11

Variant appearance in text: CFTR: R303C
PubMed Link: 17043152
Variant Present in the following documents:
  • Main text
  • jgp1280535.pdf
View BVdb publication page