KCNQ1 c.1179G>C ;(p.K393N)

Variant ID: 11-2608850-G-C

NM_000218.2(KCNQ1):c.1179G>C;(p.K393N)

This variant was identified in 11 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: 1179G>C; Lys393Asn
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Bmc Cardiovascular Disorders
Raju, Hariharan H; Ware, James S JS; Skinner, Jonathan R JR; Hedley, Paula L PL; Arno, Gavin G; Love, Donald R DR; van der Werf, Christian C; Tfelt-Hansen, Jacob J; Winkel, Bo Gregers BG; Cohen, Marta C MC; Li, Xinzhong X; John, Shibu S; Sharma, Sanjay S; Jeffery, Steve S; Wilde, Arthur A M AAM; Christiansen, Michael M; Sheppard, Mary N MN; Behr, Elijah R ER
Publication Date: 2019-07-23

Variant appearance in text: KCNQ1: 1179G>C
PubMed Link: 31337358
Variant Present in the following documents:
  • 12872_2019_1154_MOESM1_ESM.pdf
  • 12872_2019_Article_1154.pdf
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: K393N
PubMed Link: 30669290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Circulation
Giudicessi, John R JR; Roden, Dan M DM; Wilde, Arthur A M AAM; Ackerman, Michael J MJ
Publication Date: 2018-02-06

Variant appearance in text: KCNQ1: Lys393Asn
PubMed Link: 29431662
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Heart Rhythm
Clemens, Daniel J DJ; Lentino, Anne R AR; Kapplinger, Jamie D JD; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ
Publication Date: 2018-04

Variant appearance in text: KCNQ1: K393N
PubMed Link: 29197658
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: KCNQ1: K393N
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.

Frontiers In Pediatrics
Bhuiyan, Zahurul A ZA; Al-Shahrani, Safar S; Al-Aama, Jumana J; Wilde, Arthur A M AA; Momenah, Tarek S TS
Publication Date: 2013-11-20

Variant appearance in text: KCNQ1: K393N
PubMed Link: 24400285
Variant Present in the following documents:
  • Main text
  • fped-01-00039.pdf
View BVdb publication page



Long QT syndrome-associated mutations in intrauterine fetal death.

Jama
Crotti, Lia L; Tester, David J DJ; White, Wendy M WM; Bartos, Daniel C DC; Insolia, Roberto R; Besana, Alessandra A; Kunic, Jennifer D JD; Will, Melissa L ML; Velasco, Ellyn J EJ; Bair, Jennifer J JJ; Ghidoni, Alice A; Cetin, Irene I; Van Dyke, Daniel L DL; Wick, Myra J MJ; Brost, Brian B; Delisle, Brian P BP; Facchinetti, Fabio F; George, Alfred L AL; Schwartz, Peter J PJ; Ackerman, Michael J MJ
Publication Date: 2013-04-10

Variant appearance in text: KCNQ1: K393N
PubMed Link: 23571586
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology
Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M
Publication Date: 2012-08-13

Variant appearance in text: KCNQ1: K393N
PubMed Link: 22947121
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings
Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ
Publication Date: 2012-06

Variant appearance in text: KCNQ1: K393N
PubMed Link: 22677073
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: K393N
PubMed Link: 17470695
Variant Present in the following documents:
  • Main text
View BVdb publication page