CFTR c.2723C>A ;(p.T908N)

Variant ID: 7-117243651-C-A

NM_000492.3(CFTR):c.2723C>A;(p.T908N)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics
Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W
Publication Date: 2021-11-05

Variant appearance in text: rs369521395
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.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: rs369521395
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Mechanisms of CFTR Folding at the Endoplasmic Reticulum.

Frontiers In Pharmacology
Kim, Soo Jung SJ; Skach, William R WR
Publication Date: 2012

Variant appearance in text: CFTR: T908N
PubMed Link: 23248597
Variant Present in the following documents:
  • Main text
  • fphar-03-00201.pdf
View BVdb publication page



N-glycans are direct determinants of CFTR folding and stability in secretory and endocytic membrane traffic.

The Journal Of Cell Biology
Glozman, Rina R; Okiyoneda, Tsukasa T; Mulvihill, Cory M CM; Rini, James M JM; Barriere, Herve H; Lukacs, Gergely L GL
Publication Date: 2009-03-23

Variant appearance in text: CFTR: T908N
PubMed Link: 19307599
Variant Present in the following documents:
  • Main text
  • JCB_200808124.pdf
View BVdb publication page