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KCNQ1 c.688_689delinsTG ;(p.I230C)
Variant ID: 11-2593247-AT-TG
NM_000218.2(
KCNQ1
):c.688_689delinsTG;(p.I230C)
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:
Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.
Biophysical Journal
Cui, Jianmin J
Publication Date: 2016-01-05
Variant appearance in text: KCNQ1: I230C
PubMed Link:
26745405
Variant Present in the following documents:
Main text
View BVdb publication page
PIP2 regulation of KCNQ channels: biophysical and molecular mechanisms for lipid modulation of voltage-dependent gating.
Frontiers In Physiology
Zaydman, Mark A MA; Cui, Jianmin J
Publication Date: 2014
Variant appearance in text: KCNQ1: I230C
PubMed Link:
24904429
Variant Present in the following documents:
Main text
fphys-05-00195.pdf
View BVdb publication page
Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zaydman, Mark A MA; Silva, Jonathan R JR; Delaloye, Kelli K; Li, Yang Y; Liang, Hongwu H; Larsson, H Peter HP; Shi, Jingyi J; Cui, Jianmin J
Publication Date: 2013-08-06
Variant appearance in text: Kv7.1: I230C
PubMed Link:
23861489
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: I230C
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: I230C
PubMed Link:
17698596
Variant Present in the following documents:
Main text
View BVdb publication page