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KCNQ1 c.682_683delinsGA ;(p.R228E)
Variant ID: 11-2592632-AG-GA
NM_000218.2(
KCNQ1
):c.682_683delinsGA;(p.R228E)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.
Biochimica Et Biophysica Acta. Biomembranes
Dixit, Gunjan G; Dabney-Smith, Carole C; Lorigan, Gary A GA
Publication Date: 2020-05-01
Variant appearance in text: KCNQ1: R228E
PubMed Link:
31825788
Variant Present in the following documents:
Main text
View BVdb publication page
Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.
Biophysical Journal
Cui, Jianmin J
Publication Date: 2016-01-05
Variant appearance in text: KCNQ1: R228E
PubMed Link:
26745405
Variant Present in the following documents:
Main text
View BVdb publication page
KCNE3 acts by promoting voltage sensor activation in KCNQ1.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Barro-Soria, Rene R; Perez, Marta E ME; Larsson, H Peter HP
Publication Date: 2015-12-29
Variant appearance in text: KCNQ1: R228E
PubMed Link:
26668384
Variant Present in the following documents:
Main text
View BVdb publication page