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KCNH2 c.268G>A ;(p.E90K)
Variant ID: 7-150671838-C-T
NM_000238.3(
KCNH2
):c.268G>A;(p.E90K)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Frontiers In Cardiovascular Medicine
Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W
Publication Date: 2022
Variant appearance in text: LQT2: E90K
PubMed Link:
36277779
Variant Present in the following documents:
Data_Sheet_1.pdf
View BVdb publication page
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: KCNH2: E90K
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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: LQT2: E90K
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
View BVdb publication page
Folding and Misfolding of Human Membrane Proteins in Health and Disease: From Single Molecules to Cellular Proteostasis.
Chemical Reviews
Marinko, Justin T JT; Huang, Hui H; Penn, Wesley D WD; Capra, John A JA; Schlebach, Jonathan P JP; Sanders, Charles R CR
Publication Date: 2019-05-08
Variant appearance in text: LQT2: E90K
PubMed Link:
30608666
Variant Present in the following documents:
Main text
View BVdb publication page
Pharmacological chaperoning: a primer on mechanism and pharmacology.
Pharmacological Research
Leidenheimer, Nancy J NJ; Ryder, Katelyn G KG
Publication Date: 2014-05
Variant appearance in text: HERG: E90K
PubMed Link:
24530489
Variant Present in the following documents:
Main text
View BVdb publication page