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KCNH2 c.3173C>A ;(p.A1058E)
Variant ID: 7-150644122-G-T
NM_000238.3(
KCNH2
):c.3173C>A;(p.A1058E)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death.
Journal Of The American Heart Association
Chahine, Mohamed M; Fontaine, John M JM; Boutjdir, Mohamed M
Publication Date: 2022-03-15
Variant appearance in text: KCNH2: A1058E
PubMed Link:
35243873
Variant Present in the following documents:
Main text
View BVdb publication page
H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.
International Journal Of Molecular Sciences
Farrugia, Audrey A; Rollet, Kevin K; Sinniger, Jérome J; Brun, Susana S; Spenle, Caroline C; Ludes, Bertrand B; Taleb, Omar O; Mensah-Nyagan, Ayikoe Guy AG
Publication Date: 2021-08-26
Variant appearance in text: Kv11.1: A1058E
PubMed Link:
34502138
Variant Present in the following documents:
Main text
ijms-22-09235.pdf
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: KCNH2: 3173C>A
PubMed Link:
25649125
Variant Present in the following documents:
13073_2014_120_MOESM1_ESM.pdf
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: KCNH2: A1058E
PubMed Link:
22947121
Variant Present in the following documents:
Main text
2050-6511-13-6.pdf
View BVdb publication page