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