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KCNQ1 c.685_687delinsTGG ;(p.G229W)
Variant ID: 11-2593244-GGC-TGG
NM_000218.2(
KCNQ1
):c.685_687delinsTGG;(p.G229W)
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:
KCNE1 constrains the voltage sensor of Kv7.1 K+ channels.
Plos One
Shamgar, Liora L; Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09
Variant appearance in text: Kv7.1: G229W
PubMed Link:
18398469
Variant Present in the following documents:
Main text
pone.0001943.pdf
View BVdb publication page