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