CFTR c.40A>T ;(p.K14*)

Variant ID: 7-117120188-A-T

NM_000492.3(CFTR):c.40A>T;(p.K14*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Publication Date: 2022-01-21

Variant appearance in text: CFTR: 40A>T; K14X
PubMed Link: 35072004
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs397508673
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.

Molecular And Cellular Biology
Lee, Seakwoo S; Henderson, Mark J MJ; Schiffhauer, Eric E; Despanie, Jordan J; Henry, Katherine K; Kang, Po Wei PW; Walker, Douglas D; McClure, Michelle L ML; Wilson, Landon L; Sorscher, Eric J EJ; Zeitlin, Pamela L PL
Publication Date: 2014-07

Variant appearance in text: CFTR: K14X
PubMed Link: 24777605
Variant Present in the following documents:
  • Main text
View BVdb publication page