CFTR c.3737C>A ;(p.T1246N)

Variant ID: 7-117282511-C-A

NM_000492.3(CFTR):c.3737C>A;(p.T1246N)

This variant was identified in 6 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: T1246N
PubMed Link: 27328319
Variant Present in the following documents:
  • Main text
  • elife-18164.pdf
View BVdb publication page


Nonintegral stoichiometry in CFTR gating revealed by a pore-lining mutation.

The Journal Of General Physiology
Jih, Kang-Yang KY; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2012-10

Variant appearance in text: CFTR: T1246N
PubMed Link: 22966014
Variant Present in the following documents:
  • Main text
  • JGP_201210834.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: T1246N
PubMed Link: 21576373
Variant Present in the following documents:
  • Main text
  • JGP_201110608.pdf
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: T1246N
PubMed Link: 18957373
Variant Present in the following documents:
  • Main text
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: T1246N
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: T1246N
PubMed Link: 15729345
Variant Present in the following documents:
  • Main text
View BVdb publication page