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CFTR c.1054_1055delinsAA ;(p.R352K)
Variant ID: 7-117180338-CG-AA
NM_000492.3(
CFTR
):c.1054_1055delinsAA;(p.R352K)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Evolutionary and functional divergence between the cystic fibrosis transmembrane conductance regulator and related ATP-binding cassette transporters.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Jordan, I King IK; Kota, Karthik C KC; Cui, Guiying G; Thompson, Christopher H CH; McCarty, Nael A NA
Publication Date: 2008-12-02
Variant appearance in text: CFTR: R352K
PubMed Link:
19020075
Variant Present in the following documents:
Main text
View BVdb publication page
Mutations at arginine 352 alter the pore architecture of CFTR.
The Journal Of Membrane Biology
Cui, Guiying G; Zhang, Zhi-Ren ZR; O'Brien, Andrew R W AR; Song, Binlin B; McCarty, Nael A NA
Publication Date: 2008-03
Variant appearance in text: CFTR: R352K
PubMed Link:
18421494
Variant Present in the following documents:
Main text
View BVdb publication page
Positive charges at the intracellular mouth of the pore regulate anion conduction in the CFTR chloride channel.
The Journal Of General Physiology
Aubin, Chantal N St CN; Linsdell, Paul P
Publication Date: 2006-11
Variant appearance in text: CFTR: R352K
PubMed Link:
17043152
Variant Present in the following documents:
Main text
jgp1280535.pdf
View BVdb publication page