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.




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