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KCNQ1 c.691_693delinsTGG ;(p.R231W)
Variant ID: 11-2593250-CGC-TGG
NM_000218.2(
KCNQ1
):c.691_693delinsTGG;(p.R231W)
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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dbSNP
Publications:
Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.
Frontiers In Physiology
Wang, Yundi Y; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2020
Variant appearance in text: KCNQ1: R231W
PubMed Link:
32581825
Variant Present in the following documents:
Main text
fphys-11-00504.pdf
View BVdb publication page
KCNQ1 channels do not undergo concerted but sequential gating transitions in both the absence and the presence of KCNE1 protein.
The Journal Of Biological Chemistry
Meisel, Eshcar E; Dvir, Meidan M; Haitin, Yoni Y; Giladi, Moshe M; Peretz, Asher A; Attali, Bernard B
Publication Date: 2012-10-05
Variant appearance in text: KCNQ1: R231W
PubMed Link:
22908235
Variant Present in the following documents:
Main text
View BVdb publication page
Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels.
The Journal Of Physiology
Restier, Lioara L; Cheng, Lan L; Sanguinetti, Michael C MC
Publication Date: 2008-09-01
Variant appearance in text: KCNQ1: R231W
PubMed Link:
18599533
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: R231W
PubMed Link:
18398469
Variant Present in the following documents:
Main text
pone.0001943.pdf
View BVdb publication page