CFTR c.1340A>G ;(p.K447R)

Variant ID: 7-117188825-A-G

NM_000492.3(CFTR):c.1340A>G;(p.K447R)

This variant was identified in 3 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: rs746941790
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Different SUMO paralogues determine the fate of wild-type and mutant CFTRs: biogenesis versus degradation.

Molecular Biology Of The Cell
Gong, Xiaoyan X; Liao, Yong Y; Ahner, Annette A; Larsen, Mads Breum MB; Wang, Xiaohui X; Bertrand, Carol A CA; Frizzell, Raymond A RA
Publication Date: 2019-01-01

Variant appearance in text: CFTR: K447R
PubMed Link: 30403549
Variant Present in the following documents:
  • Main text
  • mbc-30-4.pdf
View BVdb publication page



Non-native Conformers of Cystic Fibrosis Transmembrane Conductance Regulator NBD1 Are Recognized by Hsp27 and Conjugated to SUMO-2 for Degradation.

The Journal Of Biological Chemistry
Gong, Xiaoyan X; Ahner, Annette A; Roldan, Ariel A; Lukacs, Gergely L GL; Thibodeau, Patrick H PH; Frizzell, Raymond A RA
Publication Date: 2016-01-22

Variant appearance in text: CFTR: K447R
PubMed Link: 26627832
Variant Present in the following documents:
  • Main text
View BVdb publication page