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.




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