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KCNQ1 c.953_954delinsTC ;(p.K318I)
Variant ID: 11-2604696-AG-TC
NM_000218.2(
KCNQ1
):c.953_954delinsTC;(p.K318I)
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:
Pore- and state-dependent cadmium block of I(Ks) channels formed with MinK-55C and wild-type KCNQ1 subunits.
Biophysical Journal
Chen, Haijun H; Sesti, Federico F; Goldstein, Steve A N SA
Publication Date: 2003-06
Variant appearance in text: KCNQ1: K318I
PubMed Link:
12770875
Variant Present in the following documents:
Main text
View BVdb publication page
TEA(+)-sensitive KCNQ1 constructs reveal pore-independent access to KCNE1 in assembled I(Ks) channels.
The Journal Of General Physiology
Kurokawa, J J; Motoike, H K HK; Kass, R S RS
Publication Date: 2001-01
Variant appearance in text: KCNQ1: K318I
PubMed Link:
11134230
Variant Present in the following documents:
Main text
View BVdb publication page