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KCNQ1 c.1066_1067delinsGC ;(p.Q356A)
Variant ID: 11-2606475-CA-GC
NM_000218.2(
KCNQ1
):c.1066_1067delinsGC;(p.Q356A)
This variant was identified in 2 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: Q356A
PubMed Link:
32015334
Variant Present in the following documents:
41467_2020_Article_14406.pdf
41467_2020_14406_MOESM1_ESM.pdf
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: LQT1: Q356A
PubMed Link:
17932138
Variant Present in the following documents:
Main text
View BVdb publication page