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CFTR c.3435G>C ;(p.W1145C)
Variant ID: 7-117254734-G-C
NM_000492.3(
CFTR
):c.3435G>C;(p.W1145C)
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:
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: W1145C
PubMed Link:
29581173
Variant Present in the following documents:
JGP_201711946_TableS1.pdf
View BVdb publication page
Transmembrane helical interactions in the CFTR channel pore.
Plos Computational Biology
Das, Jhuma J; Aleksandrov, Andrei A AA; Cui, Liying L; He, Lihua L; Riordan, John R JR; Dokholyan, Nikolay V NV
Publication Date: 2017-06
Variant appearance in text: CFTR: W1145C
PubMed Link:
28640808
Variant Present in the following documents:
Main text
pcbi.1005594.pdf
View BVdb publication page
Metal bridges illuminate transmembrane domain movements during gating of the cystic fibrosis transmembrane conductance regulator chloride channel.
The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2014-10-10
Variant appearance in text: CFTR: W1145C
PubMed Link:
25143385
Variant Present in the following documents:
Main text
View BVdb publication page
Structural basis for the channel function of a degraded ABC transporter, CFTR (ABCC7).
The Journal Of General Physiology
Bai, Yonghong Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2011-11
Variant appearance in text: CFTR: W1145C
PubMed Link:
22042986
Variant Present in the following documents:
Main text
JGP_201110705.pdf
View BVdb publication page
The V510D suppressor mutation stabilizes DeltaF508-CFTR at the cell surface.
Biochemistry
Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM
Publication Date: 2010-08-03
Variant appearance in text: CFTR: W1145C
PubMed Link:
20590134
Variant Present in the following documents:
Main text
bi100807h.pdf
View BVdb publication page
The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.
The Biochemical Journal
Loo, Tip W TW; Bartlett, M Claire MC; Wang, Ying Y; Clarke, David M DM
Publication Date: 2006-05-01
Variant appearance in text: CFTR: W1145C
PubMed Link:
16417523
Variant Present in the following documents:
Main text
View BVdb publication page