KCNQ1 c.764T>C ;(p.V255A)

Variant ID: 11-2593323-T-C

NM_000218.2(KCNQ1):c.764T>C;(p.V255A)

This variant was identified in 4 publications

View GRCh38 version.




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: V255A
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



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: V255A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page



The S4-S5 linker of KCNQ1 channels forms a structural scaffold with the S6 segment controlling gate closure.

The Journal Of Biological Chemistry
Labro, Alain J AJ; Boulet, Inge R IR; Choveau, Frank S FS; Mayeur, Evy E; Bruyns, Tine T; Loussouarn, Gildas G; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2011-01-07

Variant appearance in text: KCNQ1: V255A
PubMed Link: 21059661
Variant Present in the following documents:
  • Main text
View BVdb publication page