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KCNQ1 c.1049G>C ;(p.G350A)
Variant ID: 11-2606458-G-C
NM_000218.2(
KCNQ1
):c.1049G>C;(p.G350A)
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:
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: G350A
PubMed Link:
32015334
Variant Present in the following documents:
41467_2020_Article_14406.pdf
View BVdb publication page
Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Zaydman, Mark A MA; Silva, Jonathan R JR; Delaloye, Kelli K; Li, Yang Y; Liang, Hongwu H; Larsson, H Peter HP; Shi, Jingyi J; Cui, Jianmin J
Publication Date: 2013-08-06
Variant appearance in text: Kv7.1: G350A
PubMed Link:
23861489
Variant Present in the following documents:
Main text
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: G350A
PubMed Link:
21320432
Variant Present in the following documents:
Main text
View BVdb publication page
Role of the S6 C-terminus in KCNQ1 channel gating.
The Journal Of Physiology
Boulet, Inge R IR; Labro, Alain J AJ; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2007-12-01
Variant appearance in text: KCNQ1: G350A
PubMed Link:
17932138
Variant Present in the following documents:
Main text
View BVdb publication page