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KCNQ1 c.1774_1775delinsGG ;(p.L592G)
Variant ID: 11-2799247-CT-GG
NM_000218.2(
KCNQ1
):c.1774_1775delinsGG;(p.L592G)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Double mutant cycle analysis identified a critical leucine residue in the IIS4S5 linker for the activation of the Ca(V)2.3 calcium channel.
The Journal Of Biological Chemistry
Wall-Lacelle, Sébastien S; Hossain, Md Israil MI; Sauvé, Rémy R; Blunck, Rikard R; Parent, Lucie L
Publication Date: 2011-08-05
Variant appearance in text: KCNQ1: L592G
PubMed Link:
21652722
Variant Present in the following documents:
Main text
View BVdb publication page