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KCNQ1 c.1009_1010delinsGC ;(p.I337A)
Variant ID: 11-2604752-AT-GC
NM_000218.2(
KCNQ1
):c.1009_1010delinsGC;(p.I337A)
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: KCNQ1: I337A
PubMed Link:
32015334
Variant Present in the following documents:
41467_2020_14406_MOESM1_ESM.pdf
View BVdb publication page
An allosteric mechanism for drug block of the human cardiac potassium channel KCNQ1.
Molecular Pharmacology
Yang, Tao T; Smith, Jarrod A JA; Leake, Brenda F BF; Sanders, Charles R CR; Meiler, Jens J; Roden, Dan M DM
Publication Date: 2013-02
Variant appearance in text: KCNQ1: I337A
PubMed Link:
23193163
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: I337A
PubMed Link:
21320432
Variant Present in the following documents:
Main text
View BVdb publication page
Desensitization of chemical activation by auxiliary subunits: convergence of molecular determinants critical for augmenting KCNQ1 potassium channels.
The Journal Of Biological Chemistry
Gao, Zhaobing Z; Xiong, Qiaojie Q; Sun, Haiyan H; Li, Min M
Publication Date: 2008-08-15
Variant appearance in text: KCNQ1: I337A
PubMed Link:
18490447
Variant Present in the following documents:
Main text
View BVdb publication page