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KCNQ1 c.970_971delinsTG ;(p.V324C)
Variant ID: 11-2604713-GT-TG
NM_000218.2(
KCNQ1
):c.970_971delinsTG;(p.V324C)
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:
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
Gene
Abbott, Geoffrey W GW
Publication Date: 2016-01-15
Variant appearance in text: KCNQ1: V324C
PubMed Link:
26410412
Variant Present in the following documents:
Main text
View BVdb publication page
KCNQ1 subdomains involved in KCNE modulation revealed by an invertebrate KCNQ1 orthologue.
The Journal Of General Physiology
Nakajo, Koichi K; Nishino, Atsuo A; Okamura, Yasushi Y; Kubo, Yoshihiro Y
Publication Date: 2011-11
Variant appearance in text: KCNQ1: V324C
PubMed Link:
22042987
Variant Present in the following documents:
Main text
JGP_201110677.pdf
View BVdb publication page
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: V324C
PubMed Link:
19131515
Variant Present in the following documents:
Main text
View BVdb publication page