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KCNQ1 c.1012T>G ;(p.S338A)
Variant ID: 11-2604755-T-G
NM_000218.2(
KCNQ1
):c.1012T>G;(p.S338A)
This variant was identified in 5 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: S338A
PubMed Link:
35768468
Variant Present in the following documents:
Main text
41467_2022_Article_31526.pdf
41467_2022_31526_MOESM1_ESM.pdf
41467_2022_31526_MOESM2_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: S338A
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: S338A
PubMed Link:
21320432
Variant Present in the following documents:
Main text
View BVdb publication page
AMP-activated protein kinase inhibits KCNQ1 channels through regulation of the ubiquitin ligase Nedd4-2 in renal epithelial cells.
American Journal Of Physiology. Renal Physiology
Alzamora, Rodrigo R; Gong, Fan F; Rondanino, Christine C; Lee, Jeffrey K JK; Smolak, Christy C; Pastor-Soler, NĂºria M NM; Hallows, Kenneth R KR
Publication Date: 2010-12
Variant appearance in text: KCNQ1: S338A
PubMed Link:
20861072
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: S338A
PubMed Link:
18490447
Variant Present in the following documents:
Main text
View BVdb publication page