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KCNQ1 c.727_728delinsGC ;(p.R243A)
Variant ID: 11-2593286-CG-GC
NM_000218.2(
KCNQ1
):c.727_728delinsGC;(p.R243A)
This variant was identified in 8 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Ancient medicinal plant rosemary contains a highly efficacious and isoform-selective KCNQ potassium channel opener.
Communications Biology
Manville, Rían W RW; Hogenkamp, Derk D; Abbott, Geoffrey W GW
Publication Date: 2023-06-15
Variant appearance in text: KCNQ1: R243A
PubMed Link:
37322081
Variant Present in the following documents:
42003_2023_5021_MOESM2_ESM.pdf
View BVdb publication page
A PIP2 substitute mediates voltage sensor-pore coupling in KCNQ activation.
Communications Biology
Liu, Yongfeng Y; Xu, Xianjin X; Gao, Junyuan J; Naffaa, Moawiah M MM; Liang, Hongwu H; Shi, Jingyi J; Wang, Hong Zhan HZ; Yang, Nien-Du ND; Hou, Panpan P; Zhao, Wenshan W; White, Kelli McFarland KM; Kong, Wenjuan W; Dou, Alex A; Cui, Amy A; Zhang, Guohui G; Cohen, Ira S IS; Zou, Xiaoqin X; Cui, Jianmin J
Publication Date: 2020-07-16
Variant appearance in text: KCNQ1: R243A
PubMed Link:
32678288
Variant Present in the following documents:
42003_2020_1104_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
The ubiquitous flavonoid quercetin is an atypical KCNQ potassium channel activator.
Communications Biology
Redford, Kaitlyn E KE; Abbott, Geoffrey W GW
Publication Date: 2020-07-08
Variant appearance in text: KCNQ1: R243A
PubMed Link:
32641720
Variant Present in the following documents:
Main text
42003_2020_1089_MOESM1_ESM.pdf
42003_2020_Article_1089.pdf
View BVdb publication page
Cilantro leaf harbors a potent potassium channel-activating anticonvulsant.
Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Manville, Rían W RW; Abbott, Geoffrey W GW
Publication Date: 2019-10
Variant appearance in text: KCNQ1: R243A
PubMed Link:
31311306
Variant Present in the following documents:
Main text
View BVdb publication page
Deconstruction of an African folk medicine uncovers a novel molecular strategy for therapeutic potassium channel activation.
Science Advances
De Silva, Angele M AM; Manville, Rían W RW; Abbott, Geoffrey W GW
Publication Date: 2018-11
Variant appearance in text: KCNQ1: R243A
PubMed Link:
30443601
Variant Present in the following documents:
Main text
aav0824.pdf
aav0824_SM.pdf
View BVdb publication page
KCNE1 alters the voltage sensor movements necessary to open the KCNQ1 channel gate.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Osteen, Jeremiah D JD; Gonzalez, Carlos C; Sampson, Kevin J KJ; Iyer, Vivek V; Rebolledo, Santiago S; Larsson, H Peter HP; Kass, Robert S RS
Publication Date: 2010-12-28
Variant appearance in text: KCNQ1: R243A
PubMed Link:
21149716
Variant Present in the following documents:
Main text
View BVdb publication page
Voltage-dependent C-type inactivation in a constitutively open K+ channel.
Biophysical Journal
Panaghie, Gianina G; Purtell, Kerry K; Tai, Kwok-Keung KK; Abbott, Geoffrey W GW
Publication Date: 2008-09-15
Variant appearance in text: KCNQ1: R243A
PubMed Link:
18567635
Variant Present in the following documents:
Main text
View BVdb publication page
The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.
The Journal Of General Physiology
Panaghie, Gianina G; Abbott, Geoffrey W GW
Publication Date: 2007-02
Variant appearance in text: KCNQ1: R243A
PubMed Link:
17227916
Variant Present in the following documents:
Main text
jgp1290121.pdf
View BVdb publication page