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KCNQ1 c.685G>T ;(p.G229C)
Variant ID: 11-2593244-G-T
NM_000218.2(
KCNQ1
):c.685G>T;(p.G229C)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.
Frontiers In Physiology
Wang, Yundi Y; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2020
Variant appearance in text: KCNQ1: G229C
PubMed Link:
32581825
Variant Present in the following documents:
Main text
fphys-11-00504.pdf
View BVdb publication page
I ion-channel pore conductance can result from individual voltage sensor movements.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Westhoff, Maartje M; Eldstrom, Jodene J; Murray, Christopher I CI; Thompson, Emely E; Fedida, David D
Publication Date: 2019-04-16
Variant appearance in text: KCNQ1: G229C
PubMed Link:
30918124
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: G229C
PubMed Link:
26745405
Variant Present in the following documents:
Main text
View BVdb publication page
KCNE peptides differently affect voltage sensor equilibrium and equilibration rates in KCNQ1 K+ channels.
The Journal Of General Physiology
Rocheleau, Jessica M JM; Kobertz, William R WR
Publication Date: 2008-01
Variant appearance in text: KCNQ1: G229C
PubMed Link:
18079560
Variant Present in the following documents:
Main text
jgp1310059.pdf
View BVdb publication page
KCNE1 and KCNE3 stabilize and/or slow voltage sensing S4 segment of KCNQ1 channel.
The Journal Of General Physiology
Nakajo, Koichi K; Kubo, Yoshihiro Y
Publication Date: 2007-09
Variant appearance in text: KCNQ1: G229C
PubMed Link:
17698596
Variant Present in the following documents:
Main text
View BVdb publication page