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KCNQ1 c.658_660delinsTGT ;(p.Q220C)
Variant ID: 11-2592608-CAG-TGT
NM_000218.2(
KCNQ1
):c.658_660delinsTGT;(p.Q220C)
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:
Location of KCNE1 relative to KCNQ1 in the I(KS) potassium channel by disulfide cross-linking of substituted cysteines.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Chung, David Y DY; Chan, Priscilla J PJ; Bankston, John R JR; Yang, Lin L; Liu, Guoxia G; Marx, Steven O SO; Karlin, Arthur A; Kass, Robert S RS
Publication Date: 2009-01-20
Variant appearance in text: KCNQ1: Q220C
PubMed Link:
19131515
Variant Present in the following documents:
Main text
View BVdb publication page
S1 constrains S4 in the voltage sensor domain of Kv7.1 K+ channels.
Plos One
Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Shamgar, Liora L; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09
Variant appearance in text: Kv7.1: Q220C
PubMed Link:
18398461
Variant Present in the following documents:
Main text
pone.0001935.pdf
View BVdb publication page