KCNQ1 c.218C>T ;(p.P73L)

Variant ID: 11-2466546-C-T

NM_000218.2(KCNQ1):c.218C>T;(p.P73L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: P73L
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Heart Rhythm
Burashnikov, Elena E; Pfeiffer, Ryan R; Barajas-Martinez, Héctor H; Delpón, Eva E; Hu, Dan D; Desai, Mayurika M; Borggrefe, Martin M; Häissaguerre, Michel M; Kanter, Ronald R; Pollevick, Guido D GD; Guerchicoff, Alejandra A; Laiño, Ruben R; Marieb, Mark M; Nademanee, Koonlawee K; Nam, Gi-Byoung GB; Robles, Roberto R; Schimpf, Rainer R; Stapleton, Dwight D DD; Viskin, Sami S; Winters, Stephen S; Wolpert, Christian C; Zimmern, Samuel S; Veltmann, Christian C; Antzelevitch, Charles C
Publication Date: 2010-12

Variant appearance in text: KCNQ1: 218C>T
PubMed Link: 20817017
Variant Present in the following documents:
  • Main text
View BVdb publication page