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CFTR c.1054_1055delinsGA ;(p.R352E)
Variant ID: 7-117180338-CG-GA
NM_000492.3(
CFTR
):c.1054_1055delinsGA;(p.R352E)
This variant was identified in 8 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular structure of the ATP-bound, phosphorylated human CFTR.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zhang, Zhe Z; Liu, Fangyu F; Chen, Jue J
Publication Date: 2018-12-11
Variant appearance in text: CFTR: R352E
PubMed Link:
30459277
Variant Present in the following documents:
Main text
pnas.201815287.pdf
View BVdb publication page
Structural mechanisms of CFTR function and dysfunction.
The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02
Variant appearance in text: CFTR: R352E
PubMed Link:
29581173
Variant Present in the following documents:
Main text
JGP_201711946.pdf
View BVdb publication page
Acute inhibition of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel by thyroid hormones involves multiple mechanisms.
American Journal Of Physiology. Cell Physiology
Cai, Zhiwei Z; Li, Hongyu H; Chen, Jeng-Haur JH; Sheppard, David N DN
Publication Date: 2013-10-15
Variant appearance in text: CFTR: R352E
PubMed Link:
23784545
Variant Present in the following documents:
Main text
View BVdb publication page
Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.
The Journal Of Biological Chemistry
Cui, Guiying G; Freeman, Cody S CS; Knotts, Taylor T; Prince, Chengyu Z CZ; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2013-07-12
Variant appearance in text: CFTR: R352E
PubMed Link:
23709221
Variant Present in the following documents:
Main text
View BVdb publication page
The cystic fibrosis transmembrane conductance regulator (CFTR): three-dimensional structure and localization of a channel gate.
The Journal Of Biological Chemistry
Rosenberg, Mark F MF; O'Ryan, Liam P LP; Hughes, Guy G; Zhao, Zhefeng Z; Aleksandrov, Luba A LA; Riordan, John R JR; Ford, Robert C RC
Publication Date: 2011-12-09
Variant appearance in text: CFTR: R352E
PubMed Link:
21931164
Variant Present in the following documents:
Main text
zbc42647.pdf
View BVdb publication page
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: R352E
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: R352E
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: R352E
PubMed Link:
17043152
Variant Present in the following documents:
Main text
jgp1280535.pdf
View BVdb publication page