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CFTR c.800A>C ;(p.E267A)
Variant ID: 7-117176658-A-C
NM_000492.3(
CFTR
):c.800A>C;(p.E267A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.
Frontiers In Pharmacology
Poroca, Diogo R DR; Pelis, Ryan M RM; Chappe, Valérie M VM
Publication Date: 2017
Variant appearance in text: CFTR: E267A
PubMed Link:
28386229
Variant Present in the following documents:
fphar-08-00151.pdf
View BVdb publication page
An electrostatic interaction at the tetrahelix bundle promotes phosphorylation-dependent cystic fibrosis transmembrane conductance regulator (CFTR) channel opening.
The Journal Of Biological Chemistry
Wang, Wei W; Roessler, Bryan C BC; Kirk, Kevin L KL
Publication Date: 2014-10-31
Variant appearance in text: CFTR: E267A
PubMed Link:
25190805
Variant Present in the following documents:
Main text
View BVdb publication page