CFTR c.3238A>C ;(p.K1080Q)

Variant ID: 7-117251733-A-C

NM_000492.3(CFTR):c.3238A>C;(p.K1080Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: rs766126240
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: K1080Q
PubMed Link: 24777605
Variant Present in the following documents:
  • Main text
View BVdb publication page