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KCNQ1 c.652_653delinsGC ;(p.K218A)
Variant ID: 11-2592602-AA-GC
NM_000218.2(
KCNQ1
):c.652_653delinsGC;(p.K218A)
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:
Voltage-dependent C-type inactivation in a constitutively open K+ channel.
Biophysical Journal
Panaghie, Gianina G; Purtell, Kerry K; Tai, Kwok-Keung KK; Abbott, Geoffrey W GW
Publication Date: 2008-09-15
Variant appearance in text: KCNQ1: K218A
PubMed Link:
18567635
Variant Present in the following documents:
Main text
View BVdb publication page
The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.
The Journal Of General Physiology
Panaghie, Gianina G; Abbott, Geoffrey W GW
Publication Date: 2007-02
Variant appearance in text: KCNQ1: K218A
PubMed Link:
17227916
Variant Present in the following documents:
Main text
jgp1290121.pdf
View BVdb publication page