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CFTR c.1000_1001delinsGC ;(p.R334A)
Variant ID: 7-117180284-CG-GC
NM_000492.3(
CFTR
):c.1000_1001delinsGC;(p.R334A)
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:
Murine and human CFTR exhibit different sensitivities to CFTR potentiators.
American Journal Of Physiology. Lung Cellular And Molecular Physiology
Cui, Guiying G; McCarty, Nael A NA
Publication Date: 2015-10-01
Variant appearance in text: CFTR: R334A
PubMed Link:
26209275
Variant Present in the following documents:
Main text
View BVdb publication page
Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.
The Journal Of General Physiology
Cui, Guiying G; Rahman, Kazi S KS; Infield, Daniel T DT; Kuang, Christopher C; Prince, Chengyu Z CZ; McCarty, Nael A NA
Publication Date: 2014-08
Variant appearance in text: CFTR: R334A
PubMed Link:
25024266
Variant Present in the following documents:
Main text
JGP_201311122.pdf
View BVdb publication page
CFTR: a cysteine at position 338 in TM6 senses a positive electrostatic potential in the pore.
Biophysical Journal
Liu, Xuehong X; Zhang, Zhi-Ren ZR; Fuller, Matthew D MD; Billingsley, Joshua J; McCarty, Nael A NA; Dawson, David C DC
Publication Date: 2004-12
Variant appearance in text: CFTR: R334A
PubMed Link:
15361410
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.
The Journal Of Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-06-01
Variant appearance in text: CFTR: R334A
PubMed Link:
12679372
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular determinants of Au(CN)(2)(-) binding and permeability within the cystic fibrosis transmembrane conductance regulator Cl(-) channel pore.
The Journal Of Physiology
Gong, Xiandi X; Burbridge, Susan M SM; Cowley, Elizabeth A EA; Linsdell, Paul P
Publication Date: 2002-04-01
Variant appearance in text: CFTR: R334A
PubMed Link:
11927667
Variant Present in the following documents:
Main text
View BVdb publication page
CFTR: covalent and noncovalent modification suggests a role for fixed charges in anion conduction.
The Journal Of General Physiology
Smith, S S SS; Liu, X X; Zhang, Z R ZR; Sun, F F; Kriewall, T E TE; McCarty, N A NA; Dawson, D C DC
Publication Date: 2001-10
Variant appearance in text: CFTR: R334A
PubMed Link:
11585852
Variant Present in the following documents:
Main text
8480.pdf
View BVdb publication page