KCNQ1 c.719A>G ;(p.H240R)

Variant ID: 11-2593278-A-G

NM_000218.2(KCNQ1):c.719A>G;(p.H240R)

This variant was identified in 7 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: 719A>G; His240Arg
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Human Genomics
Bajaj, Anjali A; Senthivel, Vigneshwar V; Bhoyar, Rahul R; Jain, Abhinav A; Imran, Mohamed M; Rophina, Mercy M; Divakar, Mohit Kumar MK; Jolly, Bani B; Verma, Ankit A; Mishra, Anushree A; Sharma, Disha D; Deepti, Siddharthan S; Sharma, Gautam G; Bansal, Raghav R; Yadav, Rakesh R; Scaria, Vinod V; Naik, Nitish N; Sivasubbu, Sridhar S
Publication Date: 2022-08-05

Variant appearance in text: KCNQ1: 719A>G; H240R; rs533669726
PubMed Link: 35932045
Variant Present in the following documents:
  • 40246_2022_402_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Structural basis for KCNE3 modulation of potassium recycling in epithelia.

Science Advances
Kroncke, Brett M BM; Van Horn, Wade D WD; Smith, Jarrod J; Kang, CongBao C; Welch, Richard C RC; Song, Yuanli Y; Nannemann, David P DP; Taylor, Keenan C KC; Sisco, Nicholas J NJ; George, Alfred L AL; Meiler, Jens J; Vanoye, Carlos G CG; Sanders, Charles R CR
Publication Date: 2016-09

Variant appearance in text: KCNQ1: His240Arg
PubMed Link: 27626070
Variant Present in the following documents:
  • Main text
  • 1501228.pdf
View BVdb publication page



Genetic screening in sudden cardiac death in the young can save future lives.

International Journal Of Legal Medicine
Stattin, Eva-Lena EL; Westin, Ida Maria IM; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Mörner, Stellan S; Norberg, Anna A; Krantz, Peter P; Wisten, Aase A
Publication Date: 2016-01

Variant appearance in text: KCNQ1: 719A>G
PubMed Link: 26228265
Variant Present in the following documents:
  • Main text
  • 414_2015_Article_1237.pdf
View BVdb publication page



IKs channels open slowly because KCNE1 accessory subunits slow the movement of S4 voltage sensors in KCNQ1 pore-forming subunits.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ruscic, Katarina J KJ; Miceli, Francesco F; Villalba-Galea, Carlos A CA; Dai, Hui H; Mishina, Yukiko Y; Bezanilla, Francisco F; Goldstein, Steve A N SA
Publication Date: 2013-02-12

Variant appearance in text: KCNQ1: H240R
PubMed Link: 23359697
Variant Present in the following documents:
  • Main text
View BVdb publication page



A shared mechanism for lipid- and beta-subunit-coordinated stabilization of the activated K+ channel voltage sensor.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Choi, Eun E; Abbott, Geoffrey W GW
Publication Date: 2010-05

Variant appearance in text: KCNQ1: H240R
PubMed Link: 20040519
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.

The Journal Of General Physiology
Panaghie, Gianina G; Abbott, Geoffrey W GW
Publication Date: 2007-02

Variant appearance in text: KCNQ1: H240R
PubMed Link: 17227916
Variant Present in the following documents:
  • Main text
  • jgp1290121.pdf
View BVdb publication page