CFTR c.367C>T ;(p.L123=)

Variant ID: 7-117171046-C-T

NM_000492.3(CFTR):c.367C>T;(p.L123=)

This variant was identified in 3 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



Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.

Nature Communications
Newell, Felicity F; Wilmott, James S JS; Johansson, Peter A PA; Nones, Katia K; Addala, Venkateswar V; Mukhopadhyay, Pamela P; Broit, Natasa N; Amato, Carol M CM; Van Gulick, Robert R; Kazakoff, Stephen H SH; Patch, Ann-Marie AM; Koufariotis, Lambros T LT; Lakis, Vanessa V; Leonard, Conrad C; Wood, Scott S; Holmes, Oliver O; Xu, Qinying Q; Lewis, Karl K; Medina, Theresa T; Gonzalez, Rene R; Saw, Robyn P M RPM; Spillane, Andrew J AJ; Stretch, Jonathan R JR; Rawson, Robert V RV; Ferguson, Peter M PM; Dodds, Tristan J TJ; Thompson, John F JF; Long, Georgina V GV; Levesque, Mitchell P MP; Robinson, William A WA; Pearson, John V JV; Mann, Graham J GJ; Scolyer, Richard A RA; Waddell, Nicola N; Hayward, Nicholas K NK
Publication Date: 2020-10-16

Variant appearance in text: CFTR: 367C>T; Leu123Leu
PubMed Link: 33067454
Variant Present in the following documents:
  • 41467_2020_18988_MOESM6_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