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CFTR c.4042_4043delinsGC ;(p.H1348A)
Variant ID: 7-117304820-CA-GC
NM_000492.3(
CFTR
):c.4042_4043delinsGC;(p.H1348A)
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:
Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions.
Elife
Sorum, Ben B; Töröcsik, Beáta B; Csanády, László L
Publication Date: 2017-09-25
Variant appearance in text: CFTR: H1348A
PubMed Link:
28944753
Variant Present in the following documents:
Main text
elife-29013.pdf
View BVdb publication page
Conformational changes in the catalytically inactive nucleotide-binding site of CFTR.
The Journal Of General Physiology
Csanády, László L; Mihályi, Csaba C; Szollosi, Andras A; Töröcsik, Beáta B; Vergani, Paola P
Publication Date: 2013-07
Variant appearance in text: CFTR: H1348A
PubMed Link:
23752332
Variant Present in the following documents:
Main text
JGP_201210954.pdf
View BVdb publication page
Mutant cycles at CFTR's non-canonical ATP-binding site support little interface separation during gating.
The Journal Of General Physiology
Szollosi, Andras A; Muallem, Daniella R DR; Csanády, László L; Vergani, Paola P
Publication Date: 2011-06
Variant appearance in text: CFTR: H1348A
PubMed Link:
21576373
Variant Present in the following documents:
Main text
JGP_201110608.pdf
View BVdb publication page