CFTR c.2860C>T ;(p.H954Y)

Variant ID: 7-117243788-C-T

NM_000492.3(CFTR):c.2860C>T;(p.H954Y)

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: rs779528411
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.

American Journal Of Human Genetics
Dirami, Thassadite T; Rode, Baptiste B; Jollivet, Mathilde M; Da Silva, Nathalie N; Escalier, Denise D; Gaitch, Natacha N; Norez, Caroline C; Tuffery, Pierre P; Wolf, Jean-Philippe JP; Becq, Frédéric F; Ray, Pierre F PF; Dulioust, Emmanuel E; Gacon, Gérard G; Bienvenu, Thierry T; Touré, Aminata A
Publication Date: 2013-05-02

Variant appearance in text: CFTR: 2860C>T
PubMed Link: 23582645
Variant Present in the following documents:
  • Main text
View BVdb publication page