KCNQ1 c.925A>T ;(p.T309S)

Variant ID: 11-2604668-A-T

NM_000218.2(KCNQ1):c.925A>T;(p.T309S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 925A>T; Thr309Ser
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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: T309S
PubMed Link: 27731317
Variant Present in the following documents:
  • ncomms12795.pdf
View BVdb publication page



Tight coupling of rubidium conductance and inactivation in human KCNQ1 potassium channels.

The Journal Of Physiology
Seebohm, Guiscard G; Sanguinetti, Michael C MC; Pusch, Michael M
Publication Date: 2003-10-15

Variant appearance in text: KCNQ1: T309S
PubMed Link: 14561821
Variant Present in the following documents:
  • Main text
View BVdb publication page