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CFTR c.292C>A ;(p.Q98K)
Variant ID: 7-117170971-C-A
NM_000492.3(
CFTR
):c.292C>A;(p.Q98K)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Functionally additive fixed positive and negative charges in the CFTR channel pore control anion binding and conductance.
The Journal Of Biological Chemistry
Linsdell, Paul P; Irving, Christina L CL; Cowley, Elizabeth A EA
Publication Date: 2022-03
Variant appearance in text: CFTR: Q98K
PubMed Link:
35101441
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Cystic fibrosis transmembrane conductance regulator chloride channel blockers: Pharmacological, biophysical and physiological relevance.
World Journal Of Biological Chemistry
Linsdell, Paul P
Publication Date: 2014-02-26
Variant appearance in text: CFTR: Q98K
PubMed Link:
24600512
Variant Present in the following documents:
Main text
View BVdb publication page
Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.
Gut
Schnúr, Andrea A; Beer, Sebastian S; Witt, Heiko H; Hegyi, Péter P; Sahin-Tóth, Miklós M
Publication Date: 2014-02
Variant appearance in text: CFTR: 292C>A; Q98K
PubMed Link:
23455445
Variant Present in the following documents:
Main text
View BVdb publication page
Tuning of CFTR chloride channel function by location of positive charges within the pore.
Biophysical Journal
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-10-17
Variant appearance in text: CFTR: Q98K
PubMed Link:
23083715
Variant Present in the following documents:
Main text
View BVdb publication page