KCNQ1 c.808_809delinsGC ;(p.F270A)

Variant ID: 11-2594103-TT-GC

NM_000218.2(KCNQ1):c.808_809delinsGC;(p.F270A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.

Elife
Kuenze, Georg G; Vanoye, Carlos G CG; Desai, Reshma R RR; Adusumilli, Sneha S; Brewer, Kathryn R KR; Woods, Hope H; McDonald, Eli F EF; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J
Publication Date: 2020-10-23

Variant appearance in text: KCNQ1: F270A
PubMed Link: 33095155
Variant Present in the following documents:
  • Main text
  • elife-57680.pdf
View BVdb publication page



Photo-Cross-Linking of IKs Demonstrates State-Dependent Interactions between KCNE1 and KCNQ1.

Biophysical Journal
Westhoff, Maartje M; Murray, Christopher I CI; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2017-07-25

Variant appearance in text: KCNQ1: F270A
PubMed Link: 28746852
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: F270A
PubMed Link: 27731317
Variant Present in the following documents:
  • ncomms12795.pdf
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: F270A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page