CFTR c.2494_2495delinsGC ;(p.C832A)

Variant ID: 7-117234987-TG-GC

NM_000492.3(CFTR):c.2494_2495delinsGC;(p.C832A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: C832A
PubMed Link: 25825169
Variant Present in the following documents:
  • supp_jgp.201411347_JGP_201411347_sm.pdf
View BVdb publication page



State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2010-12-24

Variant appearance in text: CFTR: C832A
PubMed Link: 20952391
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATP-independent CFTR channel gating and allosteric modulation by phosphorylation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Wei W; Wu, Jianping J; Bernard, Karen K; Li, Ge G; Wang, Guangyu G; Bevensee, Mark O MO; Kirk, Kevin L KL
Publication Date: 2010-02-23

Variant appearance in text: CFTR: C832A
PubMed Link: 20133716
Variant Present in the following documents:
  • Main text
View BVdb publication page



Normal gating of CFTR requires ATP binding to both nucleotide-binding domains and hydrolysis at the second nucleotide-binding domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Berger, Allan L AL; Ikuma, Mutsuhiro M; Welsh, Michael J MJ
Publication Date: 2005-01-11

Variant appearance in text: CFTR: C832A
PubMed Link: 15623556
Variant Present in the following documents:
  • Main text
View BVdb publication page