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CFTR c.1068G>T ;(p.W356C)
Variant ID: 7-117180352-G-T
NM_000492.3(
CFTR
):c.1068G>T;(p.W356C)
This variant was identified in 4 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: W356C
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: W356C
PubMed Link:
28640808
Variant Present in the following documents:
Main text
pcbi.1005594.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: W356C
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: W356C
PubMed Link:
16417523
Variant Present in the following documents:
Main text
View BVdb publication page