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KCNQ1 c.724_726delinsTGG ;(p.D242W)
Variant ID: 11-2593283-GAC-TGG
NM_000218.2(
KCNQ1
):c.724_726delinsTGG;(p.D242W)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.
Communications Biology
Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB
Publication Date: 2021-12-14
Variant appearance in text: KCNQ1: D242W
PubMed Link:
34907346
Variant Present in the following documents:
Main text
42003_2021_2909_MOESM1_ESM.pdf
42003_2021_Article_2909.pdf
View BVdb publication page
Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.
Communications Biology
Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB
Publication Date: 2021-12-14
Variant appearance in text: KCNQ1: D242W
PubMed Link:
34907346
Variant Present in the following documents:
Main text
42003_2021_2909_MOESM1_ESM.pdf
42003_2021_Article_2909.pdf
View BVdb publication page
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: Kv7.1: D242W
PubMed Link:
32015334
Variant Present in the following documents:
Main text
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: D242W
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: D242W
PubMed Link:
18398469
Variant Present in the following documents:
Main text
pone.0001943.pdf
View BVdb publication page