KCNQ1 c.1111G>A ;(p.A371T)

Variant ID: 11-2606520-G-A

NM_000218.2(KCNQ1):c.1111G>A;(p.A371T)

This variant was identified in 10 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: 1111G>A; Ala371Thr
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.

Clinical And Translational Medicine
Chen, Lulan L; He, Yue Y; Wang, Xiangdong X; Ge, Junbo J; Li, Hua H
Publication Date: 2021-10

Variant appearance in text: Kv7.1: A371T
PubMed Link: 34709746
Variant Present in the following documents:
  • Main text
  • CTM2-11-e530.pdf
View BVdb publication page



Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: KCNQ1: A371T
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
View BVdb publication page



The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences
Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A
Publication Date: 2019-01-18

Variant appearance in text: LQT1: A371T
PubMed Link: 30669290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.

Plos One
Jalily Hasani, Horia H; Ganesan, Aravindhan A; Ahmed, Marawan M; Barakat, Khaled H KH
Publication Date: 2018

Variant appearance in text: KCNQ1: A371T
PubMed Link: 29444113
Variant Present in the following documents:
  • pone.0191905.s001.pdf
View BVdb publication page



Calcium/calmodulin-dependent protein kinase II regulation of IKs during sustained β-adrenergic receptor stimulation.

Heart Rhythm
Shugg, Tyler T; Johnson, Derrick E DE; Shao, Minghai M; Lai, Xianyin X; Witzmann, Frank F; Cummins, Theodore R TR; Rubart-Von-der Lohe, Michael M; Hudmon, Andy A; Overholser, Brian R BR
Publication Date: 2018-06

Variant appearance in text: LQT1: A371T
PubMed Link: 29410121
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: LQT1: A371T
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KCNQ1: A371T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.

The Biochemical Journal
Zheng, Renjian R; Thompson, Keith K; Obeng-Gyimah, Edmond E; Alessi, Dana D; Chen, Jerri J; Cheng, Huiyong H; McDonald, Thomas V TV
Publication Date: 2010-04-28

Variant appearance in text: KCNQ1: A371T
PubMed Link: 20196769
Variant Present in the following documents:
  • Main text
View BVdb publication page



An inactivation gate in the selectivity filter of KCNQ1 potassium channels.

Biophysical Journal
Gibor, Gilad G; Yakubovich, Daniel D; Rosenhouse-Dantsker, Avia A; Peretz, Asher A; Schottelndreier, Hella H; Seebohm, Guiscard G; Dascal, Nathan N; Logothetis, Diomedes E DE; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2007-12-15

Variant appearance in text: KCNQ1: A371T
PubMed Link: 17704175
Variant Present in the following documents:
  • Main text
View BVdb publication page