CFTR c.1642_1644delinsTGT ;(p.L548C)

Variant ID: 7-117227850-CTG-TGT

NM_000492.3(CFTR):c.1642_1644delinsTGT;(p.L548C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.

The Journal Of General Physiology
Wang, Xiaohui X; Bompadre, Silvia G SG; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2009-01

Variant appearance in text: CFTR: L548C
PubMed Link: 19114635
Variant Present in the following documents:
  • Main text
  • jgp1330069.pdf
View BVdb publication page



Gating induces a conformational change in the outer vestibule of ENaC.

The Journal Of General Physiology
Snyder, P M PM; Bucher, D B DB; Olson, D R DR
Publication Date: 2000-12

Variant appearance in text: CFTR: L548C
PubMed Link: 11099347
Variant Present in the following documents:
  • 8232.pdf
View BVdb publication page