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KCNQ1 c.730_731inv ;(p.Q244W)
Variant ID: 11-2593289-CA-TG
NM_000218.2(
KCNQ1
):c.730_731inv;(p.Q244W)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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UCSC Genome Browser
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dbSNP
Publications:
Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.
Nature Communications
Hou, Panpan P; Kang, Po Wei PW; Kongmeneck, Audrey Deyawe AD; Yang, Nien-Du ND; Liu, Yongfeng Y; Shi, Jingyi J; Xu, Xianjin X; White, Kelli McFarland KM; Zaydman, Mark A MA; Kasimova, Marina A MA; Seebohm, Guiscard G; Zhong, Ling L; Zou, Xiaoqin X; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2020-02-03
Variant appearance in text: KCNQ1: Q244W
PubMed Link:
32015334
Variant Present in the following documents:
41467_2020_Article_14406.pdf
41467_2020_14406_MOESM1_ESM.pdf
View BVdb publication page
Inactivation gating of Kv7.1 channels does not involve concerted cooperative subunit interactions.
Channels (Austin, Tex.)
Meisel, Eshcar E; Tobelaim, William W; Dvir, Meidan M; Haitin, Yoni Y; Peretz, Asher A; Attali, Bernard B
Publication Date: 2018-01-01
Variant appearance in text: Kv7.1: Q244W
PubMed Link:
29451064
Variant Present in the following documents:
Main text
kchl-12-01-1441649.pdf
View BVdb publication page
KCNE1 constrains the voltage sensor of Kv7.1 K+ channels.
Plos One
Shamgar, Liora L; Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09
Variant appearance in text: Kv7.1: Q244W
PubMed Link:
18398469
Variant Present in the following documents:
Main text
pone.0001943.pdf
View BVdb publication page
An inactivation gate in the selectivity filter of KCNQ1 potassium channels.
Biophysical Journal
Gibor, Gilad G; Yakubovich, Daniel D; Rosenhouse-Dantsker, Avia A; Peretz, Asher A; Schottelndreier, Hella H; Seebohm, Guiscard G; Dascal, Nathan N; Logothetis, Diomedes E DE; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2007-12-15
Variant appearance in text: KCNQ1: Q244W
PubMed Link:
17704175
Variant Present in the following documents:
Main text
View BVdb publication page