KCNQ1 c.916G>C ;(p.G306R)

Variant ID: 11-2594211-G-C

NM_000218.2(KCNQ1):c.916G>C;(p.G306R)

This variant was identified in 13 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: 916G>C; Gly306Arg
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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: G306R
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Site-directed mutagenesis of neonatal convulsions associated KCNQ2 gene and its protein expression.

Translational Pediatrics
Zhou, Xi-Hui XH; Hui, Zhi-Yan ZY; Shi, Rui-Ming RM; Song, Hong-Xia HX; Zhang, Wei W; Liu, Li L
Publication Date: 2012-10

Variant appearance in text: KCNQ1: G306R
PubMed Link: 26835270
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: G306R
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: G306R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015

Variant appearance in text: KCNQ1: 916G>C
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L.

Pacing And Clinical Electrophysiology : Pace
Chen, Jerri J; Weber, Michael M; Um, Sung Yon SY; Walsh, Christine A CA; Tang, Yingying Y; McDonald, Thomas V TV
Publication Date: 2011-12

Variant appearance in text: KCNQ1: G306R
PubMed Link: 21895724
Variant Present in the following documents:
  • Main text
View BVdb publication page



Drug-induced QT interval shortening: potential harbinger of proarrhythmia and regulatory perspectives.

British Journal Of Pharmacology
Shah, Rashmi R RR
Publication Date: 2010-01

Variant appearance in text: KCNQ1: G306R
PubMed Link: 19563537
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: KCNQ1: G306R
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File011.xls, sheet 4
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 4
View BVdb publication page



Structural models for the KCNQ1 voltage-gated potassium channel.

Biochemistry
Smith, Jarrod A JA; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2007-12-11

Variant appearance in text: KCNQ1: Gly306Arg
PubMed Link: 17999538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation
Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S
Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: G306R
PubMed Link: 17470695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transcription factor MEF2A mutations in patients with coronary artery disease.

Human Molecular Genetics
Bhagavatula, M R Krishna MR; Fan, Chun C; Shen, Gong-Qing GQ; Cassano, June J; Plow, Edward F EF; Topol, Eric J EJ; Wang, Qing Q
Publication Date: 2004-12-15

Variant appearance in text: KCNQ1: G306R
PubMed Link: 15496429
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional consequences of the arrhythmogenic G306R KvLQT1 K+ channel mutant probed by viral gene transfer in cardiomyocytes.

The Journal Of Physiology
Li, R A RA; Miake, J J; Hoppe, U C UC; Johns, D C DC; Marbán, E E; Nuss, H B HB
Publication Date: 2001-05-15

Variant appearance in text: KCNQ1: G306R
PubMed Link: 11351021
Variant Present in the following documents:
  • Main text
View BVdb publication page