CFTR c.1996_1997delinsGC ;(p.L666A)

Variant ID: 7-117232217-TT-GC

NM_000492.3(CFTR):c.1996_1997delinsGC;(p.L666A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Multiple residues in the distal C terminus of the α-subunit have roles in modulating human epithelial sodium channel activity.

American Journal Of Physiology. Renal Physiology
Mueller, Gunhild M GM; Yan, Wusheng W; Copelovitch, Lawrence L; Jarman, Susan S; Wang, Zhijian Z; Kinlough, Carol L CL; Tolino, Michael A MA; Hughey, Rebecca P RP; Kleyman, Thomas R TR; Rubenstein, Ronald C RC
Publication Date: 2012-07-15

Variant appearance in text: CFTR: L666A
PubMed Link: 22573385
Variant Present in the following documents:
  • Main text
View BVdb publication page