CFTR c.3749A>T ;(p.K1250M)

Variant ID: 7-117282523-A-T

NM_000492.3(CFTR):c.3749A>T;(p.K1250M)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Direct sensing of intracellular pH by the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel.

The Journal Of Biological Chemistry
Chen, Jeng-Haur JH; Cai, Zhiwei Z; Sheppard, David N DN
Publication Date: 2009-12-18

Variant appearance in text: CFTR: K1250M
PubMed Link: 19837660
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct Mg(2+)-dependent steps rate limit opening and closing of a single CFTR Cl(-) channel.

The Journal Of General Physiology
Dousmanis, Athanasios G AG; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2002-06

Variant appearance in text: CFTR: K1250M
PubMed Link: 12034762
Variant Present in the following documents:
  • Main text
  • 8594.pdf
View BVdb publication page



Effect of ATP-sensitive K+ channel regulators on cystic fibrosis transmembrane conductance regulator chloride currents.

The Journal Of General Physiology
Sheppard, D N DN; Welsh, M J MJ
Publication Date: 1992-10

Variant appearance in text: CFTR: K1250M
PubMed Link: 1281220
Variant Present in the following documents:
  • jg1004573.pdf
View BVdb publication page