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KCNQ1 c.712_713delinsTG ;(p.M238W)
Variant ID: 11-2593271-AT-TG
NM_000218.2(
KCNQ1
):c.712_713delinsTG;(p.M238W)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
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: M238W
PubMed Link:
32015334
Variant Present in the following documents:
Main text
41467_2020_14406_MOESM1_ESM.pdf
41467_2020_Article_14406.pdf
View BVdb publication page
KCNE1 remodels the voltage sensor of Kv7.1 to modulate channel function.
Biophysical Journal
Wu, Dick D; Pan, Hua H; Delaloye, Kelli K; Cui, Jianmin J
Publication Date: 2010-12-01
Variant appearance in text: Kv7.1: M238W
PubMed Link:
21112284
Variant Present in the following documents:
Main text
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: M238W
PubMed Link:
18398469
Variant Present in the following documents:
Main text
pone.0001943.pdf
View BVdb publication page