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CFTR c.3749A>G ;(p.K1250R)
Variant ID: 7-117282523-A-G
NM_000492.3(
CFTR
):c.3749A>G;(p.K1250R)
This variant was identified in 13 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Potentiation of the cystic fibrosis transmembrane conductance regulator by VX-770 involves stabilization of the pre-hydrolytic, O1 state.
British Journal Of Pharmacology
Langron, Emily E; Prins, Stella S; Vergani, Paola P
Publication Date: 2018-10
Variant appearance in text: CFTR: K1250R
PubMed Link:
30107029
Variant Present in the following documents:
Main text
View BVdb publication page
Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions.
Elife
Sorum, Ben B; Töröcsik, Beáta B; Csanády, László L
Publication Date: 2017-09-25
Variant appearance in text: CFTR: K1250R
PubMed Link:
28944753
Variant Present in the following documents:
Main text
elife-29013.pdf
View BVdb publication page
Obligate coupling of CFTR pore opening to tight nucleotide-binding domain dimerization.
Elife
Mihályi, Csaba C; Töröcsik, Beáta B; Csanády, László L
Publication Date: 2016-06-21
Variant appearance in text: CFTR: K1250R
PubMed Link:
27328319
Variant Present in the following documents:
Main text
elife-18164.pdf
View BVdb publication page
New structural insights into the gating movements of CFTR.
The Journal Of General Physiology
Puljung, Michael C MC
Publication Date: 2015-05
Variant appearance in text: CFTR: K1250R
PubMed Link:
25918357
Variant Present in the following documents:
Main text
View BVdb publication page
Cysteine accessibility probes timing and extent of NBD separation along the dimer interface in gating CFTR channels.
The Journal Of General Physiology
Chaves, Luiz A Poletto LA; Gadsby, David C DC
Publication Date: 2015-04
Variant appearance in text: CFTR: K1250R
PubMed Link:
25825169
Variant Present in the following documents:
Main text
JGP_201411347.pdf
View BVdb publication page
Mutant cycles at CFTR's non-canonical ATP-binding site support little interface separation during gating.
The Journal Of General Physiology
Szollosi, Andras A; Muallem, Daniella R DR; Csanády, László L; Vergani, Paola P
Publication Date: 2011-06
Variant appearance in text: CFTR: K1250R
PubMed Link:
21576373
Variant Present in the following documents:
Main text
JGP_201110608.pdf
View BVdb publication page
Involvement of F1296 and N1303 of CFTR in induced-fit conformational change in response to ATP binding at NBD2.
The Journal Of General Physiology
Szollosi, Andras A; Vergani, Paola P; Csanády, László L
Publication Date: 2010-10
Variant appearance in text: CFTR: K1250R
PubMed Link:
20876359
Variant Present in the following documents:
Main text
JGP_201010434.pdf
View BVdb publication page
Strict coupling between CFTR's catalytic cycle and gating of its Cl- ion pore revealed by distributions of open channel burst durations.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Csanády, László L; Vergani, Paola P; Gadsby, David C DC
Publication Date: 2010-01-19
Variant appearance in text: CFTR: K1250R
PubMed Link:
19966305
Variant Present in the following documents:
Main text
View BVdb publication page
Review. ATP hydrolysis-driven gating in cystic fibrosis transmembrane conductance regulator.
Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences
Muallem, Daniella D; Vergani, Paola P
Publication Date: 2009-01-27
Variant appearance in text: CFTR: K1250R
PubMed Link:
18957373
Variant Present in the following documents:
Main text
View BVdb publication page
Thermodynamics of CFTR channel gating: a spreading conformational change initiates an irreversible gating cycle.
The Journal Of General Physiology
Csanády, László L; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2006-11
Variant appearance in text: CFTR: K1250R
PubMed Link:
17043148
Variant Present in the following documents:
Main text
jgenphysiol_jgp.200609558_1.pdf
jgp1280523.pdf
View BVdb publication page
Control of the CFTR channel's gates.
Biochemical Society Transactions
Vergani, P P; Basso, C C; Mense, M M; Nairn, A C AC; Gadsby, D C DC
Publication Date: 2005-11
Variant appearance in text: CFTR: K1250R
PubMed Link:
16246032
Variant Present in the following documents:
Main text
View BVdb publication page
CFTR channel opening by ATP-driven tight dimerization of its nucleotide-binding domains.
Nature
Vergani, Paola P; Lockless, Steve W SW; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2005-02-24
Variant appearance in text: CFTR: K1250R
PubMed Link:
15729345
Variant Present in the following documents:
Main text
View BVdb publication page
CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.
The Journal Of General Physiology
Wilkinson, D J DJ; Mansoura, M K MK; Watson, P Y PY; Smit, L S LS; Collins, F S FS; Dawson, D C DC
Publication Date: 1996-01
Variant appearance in text: CFTR: K1250R
PubMed Link:
8741733
Variant Present in the following documents:
jg1071103.pdf
View BVdb publication page