CFTR c.215C>A ;(p.A72D)

Variant ID: 7-117149138-C-A

NM_000492.3(CFTR):c.215C>A;(p.A72D)

This variant was identified in 4 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: CFTR: A72D
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CFTR: A72D
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing.

Nature Communications
Maule, Giulia G; Casini, Antonio A; Montagna, Claudia C; Ramalho, Anabela S AS; De Boeck, Kris K; Debyser, Zeger Z; Carlon, Marianne S MS; Petris, Gianluca G; Cereseto, Anna A
Publication Date: 2019-08-07

Variant appearance in text: CFTR: A72D
PubMed Link: 31391465
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Journal Of Medical Biochemistry
Ivády, Gergely G; Koczok, Katalin K; Madar, Laszlo L; Gombos, Eva E; Toth, Izabella I; Gyori, Klaudia K; Balogh, István I
Publication Date: 2015-01

Variant appearance in text: CFTR: 215C>A; A72D
PubMed Link: 28356823
Variant Present in the following documents:
  • Main text
  • jomb-2014-0055.pdf
View BVdb publication page