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CFTR c.1378A>G ;(p.T460A)
Variant ID: 7-117188863-A-G
NM_000492.3(
CFTR
):c.1378A>G;(p.T460A)
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:
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21
Variant appearance in text: CFTR: 1378A>G; Thr460Ala
PubMed Link:
35313924
Variant Present in the following documents:
13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Abundant off-target edits from site-directed RNA editing can be reduced by nuclear localization of the editing enzyme.
Rna Biology
Vallecillo-Viejo, Isabel C IC; Liscovitch-Brauer, Noa N; Montiel-Gonzalez, Maria Fernanda MF; Eisenberg, Eli E; Rosenthal, Joshua J C JJC
Publication Date: 2018-01-02
Variant appearance in text: CFTR: T460A
PubMed Link:
29099293
Variant Present in the following documents:
Main text
View BVdb publication page
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: T460A
PubMed Link:
28944753
Variant Present in the following documents:
Main text
View BVdb publication page