KCNQ1 c.1021_1023delinsTGT ;(p.A341C)

Variant ID: 11-2604764-GCG-TGT

NM_000218.2(KCNQ1):c.1021_1023delinsTGT;(p.A341C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting.

Nature Communications
Wrobel, Eva E; Rothenberg, Ina I; Krisp, Christoph C; Hundt, Franziska F; Fraenzel, Benjamin B; Eckey, Karina K; Linders, Joannes T M JT; Gallacher, David J DJ; Towart, Rob R; Pott, Lutz L; Pusch, Michael M; Yang, Tao T; Roden, Dan M DM; Kurata, Harley T HT; Schulze-Bahr, Eric E; Strutz-Seebohm, Nathalie N; Wolters, Dirk D; Seebohm, Guiscard G
Publication Date: 2016-10-12

Variant appearance in text: Kv7.1: A341C
PubMed Link: 27731317
Variant Present in the following documents:
  • ncomms12795.pdf
View BVdb publication page



Enhanced effects of isoflurane on the long QT syndrome 1-associated A341V mutant.

Anesthesiology
Mikuni, Ikuomi I; Torres, Carlos G CG; Bakshi, Tania T; Tampo, Akihito A; Carlson, Brian E BE; Bienengraeber, Martin W MW; Kwok, Wai-Meng WM
Publication Date: 2015-04

Variant appearance in text: KCNQ1: A341C
PubMed Link: 25585005
Variant Present in the following documents:
  • Main text
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: A341C
PubMed Link: 23193163
Variant Present in the following documents:
  • Main text
View BVdb publication page



Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit.

Biochimica Et Biophysica Acta
Mikuni, Ikuomi I; Torres, Carlos G CG; Bienengraeber, Martin W MW; Kwok, Wai-Meng WM
Publication Date: 2011-12

Variant appearance in text: KCNQ1: A341C
PubMed Link: 21854832
Variant Present in the following documents:
  • Main text
View BVdb publication page