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: 800A>T; Tyr267Phe

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Two small-molecule activators share similar effector sites in the KCNQ1 channel pore but have distinct effects on voltage sensor movements.

Frontiers In Physiology

Chen, Lei L; Peng, Gary G; Comollo, Thomas W TW; Zou, Xinle X; Sampson, Kevin J KJ; Larsson, H Peter HP; Kass, Robert S RS

Publication Date: 2022

Variant appearance in text: KCNQ1: Y267F

PubMed Link: 35957984

Variant Present in the following documents:

• Main text
• fphys-13-903050.pdf

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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: Y267F

PubMed Link: 33095155

Variant Present in the following documents:

• Main text
• elife-57680-fig5-data1.xlsx, sheet 2
• elife-57680.pdf

View BVdb publication page