KCNQ1 c.292_294delinsTGG ;(p.R98W)

Variant ID: 11-2466620-CGC-TGG

NM_000218.2(KCNQ1):c.292_294delinsTGG;(p.R98W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


High-throughput functional mapping of variants in an arrhythmia gene, KCNE1 , reveals novel biology.

Biorxiv : The Preprint Server For Biology
Muhammad, Ayesha A; Calandranis, Maria E ME; Li, Bian B; Yang, Tao T; Blackwell, Daniel J DJ; Harvey, M Lorena ML; Smith, Jeremy E JE; Chew, Ashli E AE; Capra, John A JA; Matreyek, Kenneth A KA; Fowler, Douglas M DM; Roden, Dan M DM; Glazer, Andrew M AM
Publication Date: 2023-04-29

Variant appearance in text: KCNQ1: R98W
PubMed Link: 37162834
Variant Present in the following documents:
  • Main text
View BVdb publication page



Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

Journal Of The American College Of Cardiology
Lahrouchi, Najim N; Raju, Hariharan H; Lodder, Elisabeth M EM; Papatheodorou, Efstathios E; Ware, James S JS; Papadakis, Michael M; Tadros, Rafik R; Cole, Della D; Skinner, Jonathan R JR; Crawford, Jackie J; Love, Donald R DR; Pua, Chee J CJ; Soh, Bee Y BY; Bhalshankar, Jaydutt D JD; Govind, Risha R; Tfelt-Hansen, Jacob J; Winkel, Bo G BG; van der Werf, Christian C; Wijeyeratne, Yanushi D YD; Mellor, Greg G; Till, Jan J; Cohen, Marta C MC; Tome-Esteban, Maria M; Sharma, Sanjay S; Wilde, Arthur A M AAM; Cook, Stuart A SA; Bezzina, Connie R CR; Sheppard, Mary N MN; Behr, Elijah R ER
Publication Date: 2017-05-02

Variant appearance in text: KCNQ1: R98W
PubMed Link: 28449774
Variant Present in the following documents:
View BVdb publication page



Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy
Harkcom, William T WT; Abbott, Geoffrey W GW
Publication Date: 2010-08

Variant appearance in text: KCNQ1: R98W
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
View BVdb publication page