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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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
View BVdb publication page
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