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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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