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KCNQ1 c.784_785delinsGC ;(p.L262A)
Variant ID: 11-2594079-CT-GC
NM_000218.2(
KCNQ1
):c.784_785delinsGC;(p.L262A)
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:
Structural and electrophysiological basis for the modulation of KCNQ1 channel currents by ML277.
Nature Communications
Willegems, Katrien K; Eldstrom, Jodene J; Kyriakis, Efthimios E; Ataei, Fariba F; Sahakyan, Harutyun H; Dou, Ying Y; Russo, Sophia S; Van Petegem, Filip F; Fedida, David D
Publication Date: 2022-06-29
Variant appearance in text: KCNQ1: L262A
PubMed Link:
35768468
Variant Present in the following documents:
Main text
41467_2022_Article_31526.pdf
41467_2022_31526_MOESM1_ESM.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: KCNQ1: L262A
PubMed Link:
32015334
Variant Present in the following documents:
Main text
41467_2020_Article_14406.pdf
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: L262A
PubMed Link:
21320432
Variant Present in the following documents:
Main text
View BVdb publication page