CFTR c.369A>T ;(p.L123=)

Variant ID: 7-117171048-A-T

NM_000492.3(CFTR):c.369A>T;(p.L123=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: CFTR: L123L
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, 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: L123L
PubMed Link: 29099293
Variant Present in the following documents:
  • Main text
View BVdb publication page