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KCNQ1 c.775_776delinsGC ;(p.R259A)
Variant ID: 11-2593334-CG-GC
NM_000218.2(
KCNQ1
):c.775_776delinsGC;(p.R259A)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: R259A
PubMed Link:
32678288
Variant Present in the following documents:
42003_2020_1104_MOESM2_ESM.xlsx, sheet 1
42003_2020_1104_MOESM1_ESM.pdf
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: R259A
PubMed Link:
26745405
Variant Present in the following documents:
Main text
View BVdb publication page
Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.
Biophysical Journal
Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V
Publication Date: 2011-02-16
Variant appearance in text: KCNQ1: R259A
PubMed Link:
21320432
Variant Present in the following documents:
Main text
View BVdb publication page
The S4-S5 linker of KCNQ1 channels forms a structural scaffold with the S6 segment controlling gate closure.
The Journal Of Biological Chemistry
Labro, Alain J AJ; Boulet, Inge R IR; Choveau, Frank S FS; Mayeur, Evy E; Bruyns, Tine T; Loussouarn, Gildas G; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2011-01-07
Variant appearance in text: KCNQ1: R259A
PubMed Link:
21059661
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: R259A
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: R259A
PubMed Link:
17227916
Variant Present in the following documents:
Main text
jgp1290121.pdf
View BVdb publication page