×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
26776555 2016
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
26279430 2015
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.
23085483 2013
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
24167619 2013
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.
23420830 2013
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
20129283 2010
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
19251209 2009
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
19272188 2009
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.
18252757 2008
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
18451998 2008
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.
18616619 2008
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.
18456723 2008
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
A sodium channel pore mutation causing Brugada syndrome.
17198989 2007
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].
18341814 2007
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
16616735 2006
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].
17081365 2006
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.
17075016 2006
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
16325048 2005
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.
16266370 2005
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Double SCN5A mutation underlying asymptomatic Brugada syndrome.
15851320 2005
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome.
15338453 2004
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs.
15023552 2004
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.
15579534 2004
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
11823453 2002
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
12106943 2002